New ATP1A1 Mutation Identified in Adolescent with Intermediate CMT

New ATP1A1 Mutation Identified in Adolescent with Intermediate CMT

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New ATP1A1 Mutation Identified in Adolescent with Intermediate CMT

A newly identified mutation in the ATP1A1 gene associated with an intermediate form of Charcot-Marie-Tooth disease (CMT) was found in an adolescent in Spain, scientists report. The mutation, detected through genetic analysis of CMT patients in a specific region of Spain, adds to the increasing number of ATP1A1 mutations linked to CMT. In addition, the CMT Pediatric Scale (CMTPedS) was found to be a sensitive measure of disease progression over one and two years, supporting…

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