Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth (CMT) neuropathy is a heterogeneous group of inherited disorders of the peripheral nervous system. The authors recently mapped an autosomal dominant demyelinating form of CMT type 1 (CMT1C) to chromosome 16p13.1-p12.3. OBJECTIVE: To find the gene mutations underlying CMT1C. METHODS: The authors used a combination of standard positional cloning and candidate gene approaches to...

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