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A rare case of centronuclear myopathy with DNM2 mutation: genotype-phenotype correlation

Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant mutations in the DNM2 gene-encoding dynamin-2,...

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Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Amir Ghorbani Aghbolaghi (Зохиогч), Mirna Lechpammer (Зохиогч)
Формат:	Ном
Хэвлэсэн:	University of São Paulo, 2017-06-01T00:00:00Z.
Нөхцлүүд:	article
Онлайн хандалт:	Connect to this object online.
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!

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