Test Requested: ExomeMit - Clinical Exome & Whole Mitochondrial genome sequencing CLINICAL DIAGNOSIS /SYMPTOMS /HISTORY Mr. Nisit Goswami, born of a non-consanguineous marriage, presented with clinical indications of peripheral hypotonia,distal muscle weakness, pes cavus positive since 19-20 years of age. His elder sister is having bilateral foot weakness(distal), pure motor weakness and difficulty walking. Mr. Nisit Goswami is suspected to be affected with Charcot Marie tooth disease and has been evaluated for pathogenic gene variations. RESULTS