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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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Bibliografiske detaljer
Udgivet i:Iran Biomed J
Main Authors: Hashemi-Gorji, Feyzollah, Yassaee, Vahid Reza, Dashti, Parisa, Miryounesi, Mohammad
Format: Artigo
Sprog:Inglês
Udgivet: Pasteur Institute 2018
Fag:
Online adgang: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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