<?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>1870-7203</journal-id>
<journal-title><![CDATA[Acta médica Grupo Ángeles]]></journal-title>
<abbrev-journal-title><![CDATA[Acta méd. Grupo Ángeles]]></abbrev-journal-title>
<issn>1870-7203</issn>
<publisher>
<publisher-name><![CDATA[Grupo Ángeles, Servicios de Salud]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1870-72032024000400312</article-id>
<article-id pub-id-type="doi">10.35366/117522</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Miopatía central core neonatal causada por mutación en el gen RYR1]]></article-title>
<article-title xml:lang="en"><![CDATA[Neonatal central core myopathy caused by RYR1 gene mutation]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Saba Barris]]></surname>
<given-names><![CDATA[Isaac]]></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="A1"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Núñez del Prado Alcoreza]]></surname>
<given-names><![CDATA[José Reynaldo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Orozco Gutiérrez]]></surname>
<given-names><![CDATA[Alberto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bracho Blanchet]]></surname>
<given-names><![CDATA[Eduardo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Posada Sotos]]></surname>
<given-names><![CDATA[Laura Gabriela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Peraza Nieto]]></surname>
<given-names><![CDATA[Lucero Josefina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Angeles Pedregal Departamento de Pediatría ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Angeles Pedregal Departamento de Pediatría ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>México</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>10</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>10</month>
<year>2024</year>
</pub-date>
<volume>22</volume>
<numero>4</numero>
<fpage>312</fpage>
<lpage>314</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1870-72032024000400312&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1870-72032024000400312&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1870-72032024000400312&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: Las miopatías congénitas son un grupo diverso y heterogéneo de enfermedades que típicamente se manifiestan en el periodo neonatal. Las miopatías tipo central core se caracterizan por la actividad oxidativa focalmente reducida en la biopsia muscular. La mutación más común asociada con esta enfermedad es la mutación en el gen RYR1 que codifica para el receptor de rianodina 1 y que está involucrado en los canales de calcio localizados en la membrana del retículo sarcoplásmico de células de músculo estriado. Esto corresponde clínicamente a hipotonía, retraso motor, escoliosis, contracturas musculares, insuficiencia respiratoria y susceptibilidad a hipertermia maligna. La severidad de los síntomas varía dependiendo de la edad de presentación y de la expresión genética.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract: Congenital myopathies are a diverse and heterogeneous group of diseases that typically manifest in the neonatal period. Central core myopathies are characterized by focally reduced oxidative activity in muscle biopsy. The most common mutation associated with this disease is the mutation in the RYR1 gene that codes for the ryanodine receptor 1 that is involved in calcium channels located in the membrane of the sarcoplasmic reticulum of striated muscle cells. This corresponds clinically to hypotonia, motor delay, scoliosis, contractures, respiratory failure and susceptibility to malignant hyperthermia. The severity of symptoms varies depending on the age of presentation and genetic expression.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[miopatía]]></kwd>
<kwd lng="es"><![CDATA[central core]]></kwd>
<kwd lng="es"><![CDATA[RYR1]]></kwd>
<kwd lng="es"><![CDATA[neonatal]]></kwd>
<kwd lng="es"><![CDATA[hipotonía]]></kwd>
<kwd lng="en"><![CDATA[myopathy]]></kwd>
<kwd lng="en"><![CDATA[central core]]></kwd>
<kwd lng="en"><![CDATA[RYR1]]></kwd>
<kwd lng="en"><![CDATA[neonatal]]></kwd>
<kwd lng="en"><![CDATA[hypotonia]]></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[Ogasawara]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Nishino]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy]]></article-title>
<source><![CDATA[Neuromuscul Disord]]></source>
<year>2021</year>
<volume>31</volume>
<numero>10</numero>
<issue>10</issue>
<page-range>968-77</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[Huang]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Bi]]></surname>
<given-names><![CDATA[FF]]></given-names>
</name>
<name>
<surname><![CDATA[Yang]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A systematic review and meta-analysis of the prevalence of congenital myopathy]]></article-title>
<source><![CDATA[Front Neurol]]></source>
<year>2021</year>
<volume>12</volume>
<page-range>761636</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[Todd]]></surname>
<given-names><![CDATA[JJ]]></given-names>
</name>
<name>
<surname><![CDATA[Razaqyar]]></surname>
<given-names><![CDATA[MS]]></given-names>
</name>
<name>
<surname><![CDATA[Witherspoon]]></surname>
<given-names><![CDATA[JW]]></given-names>
</name>
<name>
<surname><![CDATA[Lawal]]></surname>
<given-names><![CDATA[TA]]></given-names>
</name>
<name>
<surname><![CDATA[Mankodi]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Chrismer]]></surname>
<given-names><![CDATA[IC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Novel variants in individuals with RYR1-related congenital myopathies: genetic, laboratory, and clinical findings]]></article-title>
<source><![CDATA[Front Neurol]]></source>
<year>2018</year>
<volume>9</volume>
<page-range>118</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gineste]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Laporte]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Therapeutic approaches in different congenital myopathies]]></article-title>
<source><![CDATA[Curr Opin Pharmacol]]></source>
<year>2023</year>
<volume>68</volume>
<page-range>102328</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Jungbluth]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Sewry]]></surname>
<given-names><![CDATA[CA]]></given-names>
</name>
<name>
<surname><![CDATA[Muntoni]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Core myopathies]]></article-title>
<source><![CDATA[Semin Pediatr Neurol]]></source>
<year>2011</year>
<volume>18</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>239-49</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[Todd]]></surname>
<given-names><![CDATA[JJ]]></given-names>
</name>
<name>
<surname><![CDATA[Lawal]]></surname>
<given-names><![CDATA[TA]]></given-names>
</name>
<name>
<surname><![CDATA[Witherspoon]]></surname>
<given-names><![CDATA[JW]]></given-names>
</name>
<name>
<surname><![CDATA[Chrismer]]></surname>
<given-names><![CDATA[IC]]></given-names>
</name>
<name>
<surname><![CDATA[Razaqyar]]></surname>
<given-names><![CDATA[MS]]></given-names>
</name>
<name>
<surname><![CDATA[Punjabi]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies]]></article-title>
<source><![CDATA[Neurology]]></source>
<year>2020</year>
<volume>94</volume>
<numero>13</numero>
<issue>13</issue>
<page-range>e1434-44</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[Witherspoon]]></surname>
<given-names><![CDATA[JW]]></given-names>
</name>
<name>
<surname><![CDATA[Meilleur]]></surname>
<given-names><![CDATA[KG]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Review of RyR1 pathway and associated pathomechanisms]]></article-title>
<source><![CDATA[Acta Neuropathol Commun]]></source>
<year>2016</year>
<volume>4</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>121</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[Messina]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Hartley]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Main]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Kinali]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Jungbluth]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Muntoni]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Mercuri]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Pilot trial of salbutamol in central core and multi-minicore diseases]]></article-title>
<source><![CDATA[Neuropediatrics]]></source>
<year>2004</year>
<volume>35</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>262-6</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rendu]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Brocard]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Denarier]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Monnier]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Piétri-Rouxel]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Beley]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy]]></article-title>
<source><![CDATA[Hum Gene Ther]]></source>
<year>2013</year>
<volume>24</volume>
<numero>7</numero>
<issue>7</issue>
<page-range>702-13</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hedermann]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Vissing]]></surname>
<given-names><![CDATA[CR]]></given-names>
</name>
<name>
<surname><![CDATA[Heje]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Preisler]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Witting]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Vissing]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Aerobic training in patients with congenital myopathy]]></article-title>
<source><![CDATA[PLoS One]]></source>
<year>2016</year>
<volume>11</volume>
<numero>1</numero>
<issue>1</issue>
</nlm-citation>
</ref>
</ref-list>
</back>
</article>
