| Autor: |
Patroclo CB; Neurology Clinic, School of Medicine, São Paulo University, São Paulo, SP, Brazil. crispatroclo@yahoo.com.br, Lino AM, Marchiori PE, Brotto MW, Hirata MT |
| Jazyk: |
angličtina |
| Zdroj: |
Arquivos de neuro-psiquiatria [Arq Neuropsiquiatr] 2009 Sep; Vol. 67 (3B), pp. 892-6. |
| DOI: |
10.1590/s0004-282x2009000500021 |
| Abstrakt: |
We report four Brazilian siblings with Autosomal Dominant Hereditary Motor Sensory Neuropathy with Proximal Dominant Involvement (HMSN-P), a rare form of HMSN, that was characterized by proximal dominant muscle weakness and atrophy onset after the age of 30 years, fasciculation, arreflexia and sensory disturbances with autosomal dominant inheritance. Electrophysiological study and sural nerve biopsy were in the accordance with axonal sensory motor polyneuropathy and laboratorial analysis disclosed serum lipids and muscle enzymes abnormalities. Our report is the first done by a group outside Japan, where the disease initially seemed to be restricted and stressed the phenotypic variability from the original report. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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