A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report

Merosin deficient congenital muscular dystrophy type 1A (MDC1A) is caused by defects in the LAMA2 gene. Patients with MDC1A exhibit severe symptoms, including congenital hypotonia, delayed motor development and contractures. The present case report describes a Vietnamese male child with clinical man...

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Detalles Bibliográficos
Autores principales: Tran, Kien Trung, Le, Vinh Sy, Vu, Chinh Duy, Nguyen, Liem Thanh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6951223/
https://www.ncbi.nlm.nih.gov/pubmed/31929873
http://dx.doi.org/10.3892/br.2019.1260

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6951223/
https://www.ncbi.nlm.nih.gov/pubmed/31929873
http://dx.doi.org/10.3892/br.2019.1260

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