Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report

We describe three siblings of consanguineous kindred presenting with hypotonia, reduced muscle tone, action tremor, dysmetria, areflexia, and skeletal deformities, consistent with a diagnosis of CMT. Whole-exome sequencing identified a novel homozygous c.336_337 insertion mutation inMTMR2, resulting in a frameshift and putative truncated protein. In this concise report, we discuss the clinical presentation of this rare disease and support the limited number of observations regarding the pathogenesis ofMTMR2-related neuropathies.
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research