Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin‐deficient congenital muscular dystrophy type 1A

BACKGROUND: Merosin‐deficient congenital muscular dystrophy type 1A (MDC1A) is occurred by mutations in LAMA2 gene that encodes the laminin α2 chain (merosin). MDC1A is a predominant subtype of congenital muscular dystrophy. Herein, we identified two missense mutations in LAMA2 gene in compound hete...

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Detalles Bibliográficos
Autores principales: Khorrami, Afshin, Goleij, Pouya, Karamad, Vahidreza, Taheri, Elham, Shadman, Behrouz, Emami, Parisa, Jahangirzadeh, Gholamreza, Hajazimian, Saba, Isazadeh, Alireza, Baradaran, Behzad, Heidari, Mansour
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8605159/
https://www.ncbi.nlm.nih.gov/pubmed/34528292
http://dx.doi.org/10.1002/jcla.23930

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