Mitochondrial DNA variations in Madras motor neuron disease

► Madras motor neuron disease is a neurological disease restricted to south India. ► Major symptoms of this disease are deafness, upper limb weakness and atrophy. ► Complete mtDNA analysis showed 13 disease-associated and 35 private variations. ► A rare variant m.8302A>G was observed in mt-tRNALeu in three patients.