Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report

BACKGROUND: Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a rare autosomal recessive genetic condition caused by deleterious mutations in the LAMA2 gene encoding the laminin-α2 chain. It is the most frequent subtype of congenital muscular dystrophies (CMDs) characterized by tota...

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Detalles Bibliográficos
Autores principales: El Kadiri, Youssef, Ratbi, Ilham, Laarabi, Fatima Zahra, Kriouile, Yamna, Sefiani, Abdelaziz, Lyahyai, Jaber
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8060993/
https://www.ncbi.nlm.nih.gov/pubmed/33882917
http://dx.doi.org/10.1186/s12920-021-00959-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8060993/
https://www.ncbi.nlm.nih.gov/pubmed/33882917
http://dx.doi.org/10.1186/s12920-021-00959-2

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