Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

Mutations in the gene for the ganglioside-induced differentiation-associated protein-1 (GDAP1) on 8q21 recently were reported to cause autosomal recessive Charcot-Marie-Tooth (CMT) sensorimotor neuropathy. Neurophysiology and nerve pathology were heterogeneous in these cases: a subset of GDAP1 mutat...

Бүрэн тодорхойлолт

-д хадгалсан:
Номзүйн дэлгэрэнгүй
Үндсэн зохиолч: Jan Senderek
Формат: Artigo
Хэл сонгох:англи
Хэвлэсэн: 2003
Онлайн хандалт:https://doi.org/10.1093/brain/awg068
https://academic.oup.com/brain/article-pdf/126/3/642/915240/awg068.pdf
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