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...

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主要作者: Jan Senderek
格式: Artigo
语言:英语
出版: 2003
在线阅读:https://doi.org/10.1093/brain/awg068
https://academic.oup.com/brain/article-pdf/126/3/642/915240/awg068.pdf
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