{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T05:08:03Z","timestamp":1784696883858,"version":"3.55.0"},"reference-count":60,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2019,10,29]],"date-time":"2019-10-29T00:00:00Z","timestamp":1572307200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Instituto Nacional de Pediatria, Mexico","award":["Recursos Fiscales 2015-2019, Programa E022 Investigaci\u00f3n y Desarrollo Tecnol\u00f3gico en Salud"],"award-info":[{"award-number":["Recursos Fiscales 2015-2019, Programa E022 Investigaci\u00f3n y Desarrollo Tecnol\u00f3gico en Salud"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The complete mutational spectrum of dystrophinopathies and limb-girdle muscular dystrophy (LGMD) remains unknown in Mexican population. Seventy-two unrelated Mexican male patients (73% of pediatric age) with clinical suspicion of muscular dystrophy and no evidence of DMD gene deletion on multiplex polymerase chain reaction (mPCR) analysis were analyzed by multiplex ligation-dependent probe amplification (MLPA). Those with a normal result were subjected to Sanger sequencing or to next-generation sequencing for DMD plus 10 selected LGMD-related genes. We achieved a diagnostic genotype in 80.5% (n = 58\/72) of patients with predominance of dystrophinopathy-linked genotypes (68%, n = 49\/72), followed by autosomal recessive LGMD-related genotypes (types 2A-R1, 2C-R5, 2E-R4, 2D-R3 and 2I-R9; 12.5%, n = 9\/72). MLPA showed 4.2% of false-negatives for DMD deletions assessed by mPCR. Among the small DMD variants, 96.5% (n = 28\/29) corresponded to null-alleles, most of which (72%) were inherited through a carrier mother. The FKRP p.[Leu276Ile]; [Asn463Asp] genotype is reported for the first time in Mexican patients as being associated with dilated cardiomyopathy. Absence of dysferlinopathies could be related to the small sample size and\/or the predominantly pediatric age of patients. The employed strategy seems to be an affordable diagnosis approach for Mexican muscular dystrophy male patients and their families.<\/jats:p>","DOI":"10.3390\/genes10110856","type":"journal-article","created":{"date-parts":[[2019,10,31]],"date-time":"2019-10-31T05:18:26Z","timestamp":1572499106000},"page":"856","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0592-8214","authenticated-orcid":false,"given":"Miguel Angel","family":"Alc\u00e1ntara-Ortigoza","sequence":"first","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud, Insurgentes Sur 3700-C, Colonia Insurgentes-Cuicuilco, Alcald\u00eda Coyoac\u00e1n, 04530 Ciudad de Mexico, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3123-8305","authenticated-orcid":false,"given":"Miriam Erandi","family":"Reyna-Fabi\u00e1n","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud, Insurgentes Sur 3700-C, Colonia Insurgentes-Cuicuilco, Alcald\u00eda Coyoac\u00e1n, 04530 Ciudad de Mexico, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7096-0969","authenticated-orcid":false,"given":"Ariadna","family":"Gonz\u00e1lez-del Angel","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud, Insurgentes Sur 3700-C, Colonia Insurgentes-Cuicuilco, Alcald\u00eda Coyoac\u00e1n, 04530 Ciudad de Mexico, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernardette","family":"Estandia-Ortega","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud, Insurgentes Sur 3700-C, Colonia Insurgentes-Cuicuilco, Alcald\u00eda Coyoac\u00e1n, 04530 Ciudad de Mexico, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4007-9676","authenticated-orcid":false,"given":"Ces\u00e1rea","family":"Berm\u00fadez-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud, Insurgentes Sur 3700-C, Colonia Insurgentes-Cuicuilco, Alcald\u00eda Coyoac\u00e1n, 04530 Ciudad de Mexico, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela Marisol","family":"Cruz-Miranda","sequence":"additional","affiliation":[{"name":"Maestr\u00eda en Ciencias Biol\u00f3gicas, Posgrado en Ciencias Biol\u00f3gicas, Universidad Nacional Aut\u00f3noma de Mexico, Edificio D, primer piso, Circuito de Posgrados, Ciudad Universitaria, Alcald\u00eda Coyoac\u00e1n, 04510 Ciudad de Mexico, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilde","family":"Ru\u00edz-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Servicio de Neurolog\u00eda Pedi\u00e1trica, Direcci\u00f3n M\u00e9dica, Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud, Insurgentes Sur 3700-C, Colonia Insurgentes-Cuicuilco, Alcald\u00eda Coyoac\u00e1n, 04530 Ciudad de Mexico, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,10,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1080\/14737175.2018.1508997","article-title":"An update on diagnostic options and considerations in limb-girdle dystrophies","volume":"18","author":"Angelini","year":"2018","journal-title":"Expert. 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