Article
Autosomal dominant HMSN with proximal involvement: new Brazilian cases.
Arquivos de neuro-psiquiatria - 1 Sept 2009
Patroclo Cristiane Borges, Lino Angelina Maria Martins, Marchiori Paulo Eurípides, Brotto Mário Wilson Iervolino, Hirata Maria Teresa Alves
Abstract excerpt
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...
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