We studied 17 patients from 8 unrelated families. (2) Methods: we present here our records of CMT patients harboring a mutation in one of these rare genes ( BSCL2, MORC2, HINT1, LITAF, GARS, autosomal dominant GDAP1). Other genes, such as BSCL2, MORC2, HINT1, LITAF, GARS, and autosomal dominant GDAP1 are responsible for only a minority of CMT cases. Previous reports found PMP22, GJB1, MPZ, and MFN2 as the most frequently involved genes. Over 100 CMT causative genes have been identified. (1) Background: Charcot–Marie–Tooth disease (CMT) is the most frequent form of inherited chronic motor and sensory polyneuropathy.
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