Clinical and electrophysiological features in a French family presenting with seipinopathy.

Yolaine Ollivier,Armelle Magot,Philippe Latour,Julie Perrier,Sandra Mercier,Thierry Maisonobe,Yann Péréon

Neuromuscular Disorders（2015）

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摘要

•Two new cases of seipinopathies with familial variability.•Focus on particular clinical features: asymmetry, hand involvement, parkinsonism.•Focus on specific features of the nerve conduction studies.

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关键词

Distal hereditary motor neuropathy,Seipinopathy,BSCL2 gene,Parkinson disease

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