Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

X-linked Charcot-Marie-Tooth disease (CMTX) is a clinically heterogeneous hereditary motor and sensory neuropathy with X-linked transmission. Common clinical manifestations of CMTX, as in other forms of Charcot-Marie-Tooth disease (CMT), are distal muscle wasting and weakness, hyporeflexia, distal s...

書誌詳細
主要な著者:	Lee, M, Nelson, I, Houlden, H, Sweeney, MG, Hilton-Jones, D, Blake, J, Wood, N, Reilly, M
フォーマット:	Journal article
言語:	English
出版事項:	2002

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