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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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| 出版年: | Iran Biomed J |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Pasteur Institute
2018
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| 主題: | |
| オンライン･アクセス: | 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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