Clinical and molecular spectrum of an Iranian Charcot-Marie-Tooth 2T cohort, and the diagnostic importance of whole exome sequencing in identifying co-occurrence inherited disorders.

Abstract excerpt

The late-onset axonal Charcot-Marie-Tooth type 2T (CMT2T) is a form of sensorimotor peripheral polyneuropathy caused by mutations in the membrane metalloendopeptidase (MME) gene and inherited either as an autosomal recessive (AR) or as an autosomal dominant (AD) manner with incomplete penetrance. Here, we describe the clinical presentations and genetic profiles of 11 unrelated Iranian families (15 cases)...

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