<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1657-9534</journal-id>
<journal-title><![CDATA[Colombia Médica]]></journal-title>
<abbrev-journal-title><![CDATA[Colomb. Med.]]></abbrev-journal-title>
<issn>1657-9534</issn>
<publisher>
<publisher-name><![CDATA[Universidad del Valle]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1657-95342018000200182</article-id>
<article-id pub-id-type="doi">10.25100/cm.v49i2.2522</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease]]></article-title>
<article-title xml:lang="es"><![CDATA[Heterogeneidad clínica y mutacional en pacientes colombianos con Pelizaeus Merzbacher]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Velasco Parra]]></surname>
<given-names><![CDATA[Harvy Mauricio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A3"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Maradei Anaya]]></surname>
<given-names><![CDATA[Silvia Juliana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Acosta Guio]]></surname>
<given-names><![CDATA[Johanna Carolina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Arteaga Diaz]]></surname>
<given-names><![CDATA[Clara Eugenia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Prieto Rivera]]></surname>
<given-names><![CDATA[Juan Carlos]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Nacional de Colombia Facultad de Medicina Maestria en Genética Humana]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Militar Central  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Instituto de Ortopedia Infantil Roosevelt  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Pontificia Universidad Javeriana Facultad de Medicina Genetica Medica]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Hospital La Victoria  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2018</year>
</pub-date>
<volume>49</volume>
<numero>2</numero>
<fpage>182</fpage>
<lpage>187</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S1657-95342018000200182&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S1657-95342018000200182&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S1657-95342018000200182&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Case Presentation: Pelizaeus Merzbacher Disease (PMD) is an X-linked developmental defect of myelination that causes childhood chronic spastic encephalopathy. Its genetic etiology can be either a duplication (or other gene dosage alterations) or a punctual mutation at the PLP1 locus. Clinically, it presents with developmental delay, nystagmus and, spasticity, supported by neuroimaging in which the defect of myelination is evident. We present a series of seven Colombian patients diagnosed with this leucodystrophy, describing their genotypic and phenotypic characteristics and heterogeneity.  Clinical Findings:  All patients included were male, 6 months to 16 years of age. Mean age at onset of symptoms was 8 months. Mean age at diagnosis was 5 years 5 months, being classic PMD most frequently diagnosed, as compared to the connatal phenotype. All cases had a primary diagnosis of developmental delay on 100%, and in 28.7% of cases, early onset nystagmus was described. 85.7% of patients had spasticity, 71.4% cerebellar signs, 57.0% hypotonia, and 28.5% had an abnormal movement disorder. Only three patients were able to achieve gait, though altered. In the two patients who had a diagnosis of connatal PMD maturational ages in danger zones according to the WHO Abbreviated Scale of Psychosocial Development were documented. All cases had abnormalities in neuroimages.  Molecular Analysis and Results:  Molecular studies were used in the majority of the cases to confirm the diagnosis (85.7 %). For two cases molecular confirmation was not considered necessary given their affected male brothers had already been tested. PLP1 gene dosage alterations (duplications) were found in 28.5 % of the patients (two siblings), whereas three different single nucleotide variants were detected.  Clinical Relevance: According to these findings, as authors we propose the diagnostic algorithm in Colombian population to begin on a high clinical suspicion, followed by paraclinical extension, moving on to the molecular confirmation by using approaches to simultaneously sequence the PLP1 gene in order to detect point mutations and in/dels and performing a copy number variation analysis for the detection of gene dosage alterations.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Descripción del caso: La enfermedad de Pelizaeus Merzbacher es una leucodistrofia ligada al X que causa encefalopatía espástica crónica en la infancia. Su etiología es genética, por duplicaciones u otros trastornos de la dosis génica o mutaciones puntuales del gen PLP1, lo que condiciona la formación anormal de las vainas de mielina principalmente en el sistema nervioso central. Clínicamente se caracteriza por un cuadro de retardo del neurodesarrollo, nistagmus y espasticidad, con neuroimágenes que evidencian la dismielinización. Presentamos una serie de siete casos colombianos con esta leucodistrofica en la que describimos fenotípica y genotípicamente la heterogeneidad de esta enfermedad en nuestra población.  Hallazgos clínicos: Todos los pacientes analizados fueron de sexo masculino, con edad promedio de inicio de síntomas hacia los ocho meses de vida. La edad media al diagnóstico fue de 5 años 5 meses, siendo más frecuente el diagnóstico de PMD clásica que el tipo connatal. Se describe retardo del desarrollo motor en el 100% de los casos, acompañado de nistagmus en el 28.7%. 85.7% de los casos tenía algún grado de espasticidad, 71.4 % signos cerebelosos, 57.0% hipotonía, y hasta en 28.5% se evidenciaron movimientos anormales. Solo tres pacientes lograron marcha, aunque patológica. En los dos pacientes con la forma connatal se documentó una edad maduracional motora en el rango de Alerta, de acuerdo a la escala abreviada del desarrollo de la OMS. En todos los casos se detectó algún tipo de anormalidad en el estudio imagenológico cerebral.  Estudios Moleculares y Resultados: El diagnóstico molecular se empleó en la mayoría de los casos (85.7%), encontrando alteraciones en la dosis génica en el 28.5% y tres diferentes mutaciones puntuales.  Relevancia clínica: Dados los hallazgos en los resultados del estudio molecular, sugerimos que en el abordaje diagnóstico confirmatorio para la población colombiana se debería contemplar en un mismo tiempo tanto la secuenciación como el estudio de variantes del número de copias del gen afectado, contrario a lo sugerido en literatura mundial en la que se inicia con estudio para duplicación / deleción.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Pelizaeus Merzbacher Disease]]></kwd>
<kwd lng="en"><![CDATA[Developmental Disabilities]]></kwd>
<kwd lng="en"><![CDATA[Child Development]]></kwd>
<kwd lng="en"><![CDATA[Myelin Sheatn]]></kwd>
<kwd lng="en"><![CDATA[Myelin Proteolipidic Protein]]></kwd>
<kwd lng="es"><![CDATA[Enfermedad de Pelizaeus Merzbacher]]></kwd>
<kwd lng="es"><![CDATA[desarrollo infantil]]></kwd>
<kwd lng="es"><![CDATA[discapacidades del desarrollo]]></kwd>
<kwd lng="es"><![CDATA[vaina de mielina]]></kwd>
<kwd lng="es"><![CDATA[proteína proteolipídica de la mielina]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Pelizaeus]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Über eine eigentümliche Form spastischer Lähmung mit cerebral Erscheinungen auf hereditärer Grund- lage]]></article-title>
<source><![CDATA[Arch Psychiatr Nervenkr]]></source>
<year>1885</year>
<volume>16</volume>
<page-range>698-710</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Merzbacher]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Eine eigenartige familiäre-hereditäre Erkrankungsform (Aplasia axialis extracorticalis congenita)]]></article-title>
<source><![CDATA[Z Ges Neurol Psychiatr]]></source>
<year>1910</year>
<volume>3</volume>
<page-range>1-138</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gencic]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Abuelo]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Ambler]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Hudson]]></surname>
<given-names><![CDATA[LD]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Pelizaeus - Merzbacher Disease An X - linked Neurologic Disorder of Myelin Metabolism with a Novel Mutation in the Gene Encoding Proteolipid Protein]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>1989</year>
<volume>45</volume>
<page-range>435-42</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="book">
<collab>Genetics Home Reference</collab>
<source><![CDATA[Gene PLP1]]></source>
<year>2008</year>
<publisher-name><![CDATA[NIH: USA]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hofman-Zacharska]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Mierzewska]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Szczepanik]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Poznanski]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Mazurczak]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Jakubiuk-Tomaszuk]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The espectrum of PLP1 gene mutations in patients with classical form of the Pelizaeus Merzbacher disease]]></article-title>
<source><![CDATA[Developmental Period Medicine]]></source>
<year>2013</year>
<volume>XVII</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>293-300</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hobson]]></surname>
<given-names><![CDATA[GM]]></given-names>
</name>
<name>
<surname><![CDATA[Garbern]]></surname>
<given-names><![CDATA[JY]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders]]></article-title>
<source><![CDATA[Semin Neurol]]></source>
<year>2012</year>
<volume>32</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>62-7</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Yum]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Choi]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Yoo]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[You]]></surname>
<given-names><![CDATA[SJ]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[EH]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease metabolic abnormalities as diagnostic tools]]></article-title>
<source><![CDATA[Korean J Pediatr]]></source>
<year>2012</year>
<volume>55</volume>
<numero>10</numero>
<issue>10</issue>
<page-range>397-402</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Inoue]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[PLP1-related inherited dysmyelinating disorders Pelizaeus-Merzbacher disease and spastic paraplegia type 2]]></article-title>
<source><![CDATA[Neurogenetics]]></source>
<year>2005</year>
<volume>6</volume>
<page-range>1-16</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hobson]]></surname>
<given-names><![CDATA[GM]]></given-names>
</name>
<name>
<surname><![CDATA[Kamholz]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[PLP1-Related Disorders]]></article-title>
<person-group person-group-type="editor">
<name>
<surname><![CDATA[Adam]]></surname>
<given-names><![CDATA[MP]]></given-names>
</name>
<name>
<surname><![CDATA[Ardinger]]></surname>
<given-names><![CDATA[HH]]></given-names>
</name>
<name>
<surname><![CDATA[Pagon]]></surname>
<given-names><![CDATA[RA]]></given-names>
</name>
</person-group>
<source><![CDATA[Gene Reviews]]></source>
<year>2018</year>
<publisher-loc><![CDATA[Seattle(WA) ]]></publisher-loc>
<publisher-name><![CDATA[University of Washington, Seattle]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Boulloche]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Aicardi]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Pelizaeus-Merzbacher disease clinical and nosological study]]></article-title>
<source><![CDATA[J Child Neurol]]></source>
<year>1986</year>
<volume>1</volume>
<page-range>233-9</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bonkowsky]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
<name>
<surname><![CDATA[Nelson]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Kingston]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
<name>
<surname><![CDATA[Filloux]]></surname>
<given-names><![CDATA[FM]]></given-names>
</name>
<name>
<surname><![CDATA[Mundorff]]></surname>
<given-names><![CDATA[MB]]></given-names>
</name>
<name>
<surname><![CDATA[Srivastava]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The burden of inherited leukodystrophies in children]]></article-title>
<source><![CDATA[Neurology]]></source>
<year>2010</year>
<volume>75</volume>
<page-range>718-25</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Garbern]]></surname>
<given-names><![CDATA[JY]]></given-names>
</name>
<name>
<surname><![CDATA[Yool]]></surname>
<given-names><![CDATA[DA]]></given-names>
</name>
<name>
<surname><![CDATA[Moore]]></surname>
<given-names><![CDATA[GJ]]></given-names>
</name>
<name>
<surname><![CDATA[Wilds]]></surname>
<given-names><![CDATA[IB]]></given-names>
</name>
<name>
<surname><![CDATA[Faulk]]></surname>
<given-names><![CDATA[MW]]></given-names>
</name>
<name>
<surname><![CDATA[Klugmann]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation]]></article-title>
<source><![CDATA[Brain]]></source>
<year>2002</year>
<volume>125</volume>
<page-range>551-61</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Laukka]]></surname>
<given-names><![CDATA[JJ]]></given-names>
</name>
<name>
<surname><![CDATA[Stanley]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
<name>
<surname><![CDATA[Garbern]]></surname>
<given-names><![CDATA[JY]]></given-names>
</name>
<name>
<surname><![CDATA[Trepanier]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Hobson]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Lafleur]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Neuroradiologic correlates of clinical disability and progression in the X-Linked leukodystrophy Pelizaeus-Merzbacher disease]]></article-title>
<source><![CDATA[J Neurol Sci]]></source>
<year>2013</year>
<volume>335</volume>
<numero>0</numero>
<issue>0</issue>
<page-range>75-81</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Diehl]]></surname>
<given-names><![CDATA[HJ]]></given-names>
</name>
<name>
<surname><![CDATA[Schaich]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Budzinski]]></surname>
<given-names><![CDATA[RM]]></given-names>
</name>
<name>
<surname><![CDATA[Stoffel]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Individual exons encode the integral membrane domains of human myelin proteolipid protein]]></article-title>
<source><![CDATA[Proc Natl Acad Sci U S A]]></source>
<year>1986</year>
<volume>83</volume>
<page-range>9807-11</page-range></nlm-citation>
</ref>
<ref id="B15">
<label>15</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Yool]]></surname>
<given-names><![CDATA[DA]]></given-names>
</name>
<name>
<surname><![CDATA[Edgar]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Montague]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Malcolm]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The proteolipid protein gene and myelin disorders in man and animal models]]></article-title>
<source><![CDATA[Hum Molec Genet]]></source>
<year>2000</year>
<volume>9</volume>
<page-range>987-92</page-range></nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Stoffel]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Hillen]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Giersiefen]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Structure and molecular arrangement of proteolipid protein of central nervous system myelin]]></article-title>
<source><![CDATA[Proc Natl Acad Sci U S A]]></source>
<year>1984</year>
<volume>81</volume>
<page-range>5012-6</page-range></nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hobson]]></surname>
<given-names><![CDATA[GM]]></given-names>
</name>
<name>
<surname><![CDATA[Davis]]></surname>
<given-names><![CDATA[AP]]></given-names>
</name>
<name>
<surname><![CDATA[Stowell]]></surname>
<given-names><![CDATA[NC]]></given-names>
</name>
<name>
<surname><![CDATA[Kolodny]]></surname>
<given-names><![CDATA[EH]]></given-names>
</name>
<name>
<surname><![CDATA[Sistermans]]></surname>
<given-names><![CDATA[EA]]></given-names>
</name>
<name>
<surname><![CDATA[de Coo]]></surname>
<given-names><![CDATA[IFM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease]]></article-title>
<source><![CDATA[Neurology]]></source>
<year>2000</year>
<volume>55</volume>
<page-range>1089-96</page-range></nlm-citation>
</ref>
<ref id="B18">
<label>18</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gow]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Lazzarin]]></surname>
<given-names><![CDATA[RA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease]]></article-title>
<source><![CDATA[Nat Genet]]></source>
<year>1996</year>
<volume>13</volume>
<page-range>422-8</page-range></nlm-citation>
</ref>
<ref id="B19">
<label>19</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Cailloux]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Gauthier-Barichard]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Mimault]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Isabelle]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Courtois]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Giraud]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations]]></article-title>
<source><![CDATA[Eur J Hum Genet]]></source>
<year>2000</year>
<volume>8</volume>
<page-range>837-45</page-range></nlm-citation>
</ref>
<ref id="B20">
<label>20</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Grossi]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Regis]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Biancheri]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Mort]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Lualdi]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Bertini]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders identification and functional characterization of 11 novel PLP1 mutations]]></article-title>
<source><![CDATA[Orphanet J Rare Dis]]></source>
<year>2011</year>
<volume>6</volume>
<page-range>40</page-range></nlm-citation>
</ref>
<ref id="B21">
<label>21</label><nlm-citation citation-type="book">
<collab>UniProt</collab>
<source><![CDATA[KB - P60201 (MYPR_HUMAN)]]></source>
<year></year>
<publisher-name><![CDATA[UniProt Consortium]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B22">
<label>22</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Woodward]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Kendall]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Vetrie]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Variation in PLP gene duplications causing Pelizaeus-Merzbacher disease]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>1998</year>
<volume>63</volume>
<page-range>A394</page-range></nlm-citation>
</ref>
<ref id="B23">
<label>23</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Combes]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Bonnet-Dupeyron]]></surname>
<given-names><![CDATA[MN]]></given-names>
</name>
<name>
<surname><![CDATA[Gauthier-Barichard]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Schiffmann]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Bertini]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Rodriguez]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies identification of one partial triplication and two partial deletions of PLP1]]></article-title>
<source><![CDATA[Neurogenetics]]></source>
<year>2006</year>
<volume>7</volume>
<page-range>31-7</page-range></nlm-citation>
</ref>
<ref id="B24">
<label>24</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wolf]]></surname>
<given-names><![CDATA[NI]]></given-names>
</name>
<name>
<surname><![CDATA[Sistermans]]></surname>
<given-names><![CDATA[EA]]></given-names>
</name>
<name>
<surname><![CDATA[Cundall]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Hobson]]></surname>
<given-names><![CDATA[GM]]></given-names>
</name>
<name>
<surname><![CDATA[Davis-Williams]]></surname>
<given-names><![CDATA[AP]]></given-names>
</name>
<name>
<surname><![CDATA[Palmer]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease]]></article-title>
<source><![CDATA[Brain]]></source>
<year>2005</year>
<volume>128</volume>
<page-range>743-51</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
