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Folia Neuropathologica
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3/2021
vol. 59
 
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abstract:
Original paper

Genetic analysis of muscular dystrophies: our experience in Mexico

Rosa Elena Escobar-Cedillo
1
,
Luz Berenice López-Hernández
2
,
Antonio Miranda-Duarte
1
,
María Dolores Curiel-Leal
1
,
Andrea Suarez-Ocón
1
,
Laura Sánchez-Chapul
1
,
Alexandra Berenice Luna-Angulo
1
,
Guillermina Ávila-Ramírez
3
,
Julia Angélica López-Hernández
4
,
Benjamín Gómez-Díaz
1

  1. Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Ciudad de México, México
  2. Universidad Autónoma de Guadalajara, Zapopan, Mexico; ISSSTE-Centro Médico Nacional 20 de Noviembre
  3. Universidad Nacional Autónoma de México, México
  4. Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
Folia Neuropathol 2021; 59 (3): 276-283
DOI: https://doi.org/10.5114/fn.2021.109426
Online publish date: 2021/10/05
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Muscular dystrophies are a group of well-defined genetic disorders characterized by the variable distribution of muscle wasting and progressive weakness. The diagnosis and treatment of these diseases remain challenging due to genetic heterogeneity and clinical overlapping. Herein, we describe our 10 years’ experience with the diagnosis and management of muscular dystrophy patients. In total, 169 patients were screened for pathogenic variants in eleven genes linked to frequent muscular dystrophies using MLPA and NGS sequencing panels. Most frequent muscular dystrophies found in the Mexican population were dystrophinopathies, dysferlinopathies and calpainopathies. Novel variants were found in genes: DMD, CAPN3, DYSF, and FKRP. For Duchenne muscular dystrophy, improvements in early diagnosis and prolonged ambulation were achieved, on the contrary, for limb-girdle muscular dystrophies and congenital muscular dystrophies, uncomplimentary follow-up and lack of detection strategies were observed. For most common muscular dystrophies, improvements in diagnosis and management have been achieved in the last 10 years, due to a collaborative effort done nationwide.
keywords:

muscular dystrophy, DMD, limb-girdle, Pompe, Mexico
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