Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy.

Abstract excerpt

BACKGROUND: The aim of this study was to identify the underlying genetic defect in a family segregating autosomal recessive asymmetric hereditary motor neuropathy (HMN). Asymmetric HMN has not been associated earlier with SORD mutations. METHODS: For this study, we have recruited a family and collected blood samples from affected and normal individuals of a family. Detailed clinical examination and...

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