<?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>2954-4122</journal-id>
<journal-title><![CDATA[Archivos de neurociencias (México)]]></journal-title>
<abbrev-journal-title><![CDATA[Arch. Neurocien. (Mex.)]]></abbrev-journal-title>
<issn>2954-4122</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Neurología y Neurocirugía "Manuel Velasco Suárez"]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2954-41222023000100013</article-id>
<article-id pub-id-type="doi">10.31157/an.v28i1.403</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Genetic myopathies in adults: experience in a tertiary center in Mexico]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vargas-Cañas]]></surname>
<given-names><![CDATA[Edwin Steven]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martínez-Jiménez]]></surname>
<given-names><![CDATA[Eunice]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Galnares-Olalde]]></surname>
<given-names><![CDATA[Javier Andrés]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fernández-Valverde]]></surname>
<given-names><![CDATA[Francisca]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Saráchaga Adib]]></surname>
<given-names><![CDATA[Jorge de]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bazán-Rodríguez]]></surname>
<given-names><![CDATA[Lissette]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Benitez-Alonso]]></surname>
<given-names><![CDATA[Edmar]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[López-Hernández]]></surname>
<given-names><![CDATA[Juan Carlos]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,National Institute of Neurology and Neurosurgery Manuel Velasco Suarez Clinic of Neuromuscular Diseases ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af2">
<institution><![CDATA[,National Institute of Neurology and Neurosurgery Manuel Velasco Suarez Department of Experimental Pathology ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af3">
<institution><![CDATA[,National Institute of Neurology and Neurosurgery Manuel Velasco Suarez Department of Neurogenetics ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2023</year>
</pub-date>
<volume>28</volume>
<numero>1</numero>
<fpage>13</fpage>
<lpage>19</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S2954-41222023000100013&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S2954-41222023000100013&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S2954-41222023000100013&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background: Genetic myopathies in adults are rare and represent a diagnostic challenge. With the advent of next generation sequencing panels, these diseases have been molecularly catalogued, allowing a better approach, follow-up, prognosis and treatment.  Objective: to describe the frequency of the main clinical phenotypes of myopathy of genetic origin in adults in a tertiary care center in Mexico.  Methodology:  a cross-sectional study was carried out, including all patients with a clinical diagnosis of genetic myopathy from a neuromuscular disease clinic from 2017 to 2021. Clinical and paraclinical characteristics were collected at the time of diagnosis, muscle biopsy report and genetic study. Results: 85 patients were included. The mean age of onset of symptoms was 27, with a delay in diagnosis of 7 years. The main clinical phenotypes are limb-girdle dystrophy (28%), myotonic dystrophy type 1 (26.8%), congenital myopathy (17.1%), metabolic myopathy (9.8%), oculopharyngeal (7.3%) and facioscapulohumeral (6.1%).  Conclusion: the main myopathies of genetic origin in our population are myotonic dystrophy type 1 and limb-girdle dystrophy. Recognition of them is important for proper counseling, follow-up, prognosis, and treatment of potential associated conditions.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[myopathies]]></kwd>
<kwd lng="en"><![CDATA[genetic]]></kwd>
<kwd lng="en"><![CDATA[dystrophies]]></kwd>
</kwd-group>
</article-meta>
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