Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical CNM phenotype. The X-linked neonatal form (XLCNM) is due to mutations in MTM1 and involves a...

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Библиографические подробности
Главные авторы: Böhm, Johann, Yiş, Uluç, Ortaç, Ragıp, Çakmakçı, Handan, Kurul, Semra Hız, Dirik, Eray, Laporte, Jocelyn
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2010
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3014877/
https://ncbi.nlm.nih.gov/pubmed/21129173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-5-35
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