Journal
INTERNAL MEDICINE
Volume 53, Issue 15, Pages 1655-1658Publisher
JAPAN SOC INTERNAL MEDICINE
DOI: 10.2169/internalmedicine.53.2843
Keywords
Charcot-Marie-Tooth disease; distal hereditary motor neuropathy; heat shock protein
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We herein describe a Japanese family with distal hereditary motor neuropathy carrying a K141Q mutation of small heat shock protein HSPB1. Two patients among them had late onset disease (older than 50 years). The muscles of the distal legs were weak and atrophic. Sensory and autonomic dysfunction were not seen. Even eight years after onset, one patient could still walk without support. A nerve conduction study revealed axonal degeneration of the motor nerves of the legs. A heterozygous K141Q mutation was detected in the affected patients. The late onset and mild clinical phenotype might reflect the mild biochemical alteration of HSP27 induced by the K141Q mutation.
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