Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients

Background: Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), also known as laminin-α2 chain-deficient congenital muscular dystrophy (LAMA2-MD), is an autosomal recessive disease caused by biallelic variants in the LAMA2 gene. In MDC1A, laminin- α2 chain expression is absent or signif...

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Detalles Bibliográficos
Autores principales: Tran, Van Khanh, Nguyen, Ngoc-Lan, Tran, Lan Ngoc Thi, Le, Phuong Thi, Tran, Anh Hai, Pham, Tuan L. A., Lien, Nguyen Thi Kim, Xuan, Nguyen Thi, Thanh, Le Tat, Ta, Thanh Van, Tran, Thinh Huy, Nguyen, Huy-Hoang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10301838/
https://www.ncbi.nlm.nih.gov/pubmed/37388928
http://dx.doi.org/10.3389/fgene.2023.1183663

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10301838/
https://www.ncbi.nlm.nih.gov/pubmed/37388928
http://dx.doi.org/10.3389/fgene.2023.1183663

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