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Merosin-deficient congenital muscular dystrophy type 1A: A case report

The aim of this study was to characterize the clinical and genetic features of a 4-year-old female with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). MDC1A is the most common form of congenital muscular dystrophy. MDC1A is caused by mutation of the laminin α-2 gene (LAMA2), locali...

詳細記述

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書誌詳細
主要な著者: HE, ZHANWEN, LUO, XIANGYANG, LIANG, LIYANG, LI, PINGGAN, LI, DONGFANG, ZHE, MENG
フォーマット: Artigo
言語:Inglês
出版事項: D.A. Spandidos 2013
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3820831/
https://ncbi.nlm.nih.gov/pubmed/24223650
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2013.1271
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