Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy

BACKGROUND: Merosin-deficient congenital muscular dystrophy (MDC1A) is a rare autosomal recessive genetic disease occurred due to mutations in the LAMA2 gene. This study investigated the molecular genetics of three Iranian MDC1A patients who manifested hypotonia, muscle weakness at birth, elevated l...

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Detalles Bibliográficos
Autores principales: Hashemi-Gorji, Feyzollah, Yassaee, Vahid Reza, Dashti, Parisa, Miryounesi, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pasteur Institute 2018
Materias:
Full Length
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305815/
https://www.ncbi.nlm.nih.gov/pubmed/29707938
http://dx.doi.org/10.29252/.22.6.408

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305815/
https://www.ncbi.nlm.nih.gov/pubmed/29707938
http://dx.doi.org/10.29252/.22.6.408

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