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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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Detalhes bibliográficos
Publicado no:Iran Biomed J
Main Authors: Hashemi-Gorji, Feyzollah, Yassaee, Vahid Reza, Dashti, Parisa, Miryounesi, Mohammad
Formato: Artigo
Idioma:Inglês
Publicado em: Pasteur Institute 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6305815/
https://ncbi.nlm.nih.gov/pubmed/29707938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.29252/.22.6.408
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