Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease
Journal of Neurology, Neurosurgery and Psychiatry
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Xq13.1 GeneReviews Google OMIM PubMed Who named it? [Charcot-Marie-Tooth disease] Charcot-Marie-Tooth disease, X-linked *Gene map locus Xq13.1 CMTX CMTX1 Charcot-Marie-Tooth disease, X-linked 1 Charcot-Marie-Tooth neuropathy, X-linked, 1 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked HMSN, X-linked Hereditary motor and sensory neuropathy, X-linked [Clinical features: distal muscle wasting and weakness; hyporeflexia; distal sensory disturbance; foot deformities; reduced motor nerve conduction velocity, more severely in men than in women] [Inheritance: X-linked dominant] |
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Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease |
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Journal of Neurology, Neurosurgery and Psychiatry |
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Edited by Aldo Campana,
August 21, 2012
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