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...
| Hlavní autoři: | , , , , , , , |
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| Médium: | Journal article |
| Jazyk: | English |
| Vydáno: |
2002
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