A Family with Distal Hereditary Motor Neuropathy and a K141Q Mutation of Small Heat Shock Protein <i>HSPB1</i>
نویسندگان
چکیده
منابع مشابه
A family with distal hereditary motor neuropathy and a K141Q mutation of small heat shock protein HSPB1.
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 c...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2014
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.53.2843