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Journal article

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

Abstract:

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 sensory disturbance, and foot deformities. Motor nerve conduction velocity is reduced. In male patients it is often less than 38 m/s in the median nerve (a value often used to distinguish between "d...

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Publisher copy:
10.1136/jnnp.73.3.304

Authors


Houlden, H More by this author
Sweeney, MG More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
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Journal:
Journal of neurology, neurosurgery, and psychiatry
Volume:
73
Issue:
3
Pages:
304-306
Publication date:
2002-09-05
DOI:
EISSN:
1468-330X
ISSN:
0022-3050
URN:
uuid:39d75b72-c7c0-44c5-96c0-e7d7b9586cd8
Source identifiers:
241466
Local pid:
pubs:241466

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