Mitochondrial DNA variations in Madras motor neuron disease.
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ABSTRACT:
SUBMITTER: Govindaraj P
PROVIDER: S-EPMC4805120 | biostudies-literature | 2013 Nov
REPOSITORIES: biostudies-literature
Publications
Mitochondrial DNA variations in Madras motor neuron disease.
Govindaraj Periyasamy P Nalini Atchayaram A Krishna Nithin N Sharath Anugula A Khan Nahid Akhtar NA Tamang Rakesh R Gourie-Devi M M Brown Robert H RH Thangaraj Kumarasamy K
Mitochondrion 20130216 6
Although the Madras motor neuron disease (MMND) was found three decades ago, its genetic basis has not been elucidated, so far. The symptom at onset was impaired hearing, upper limb weakness and atrophy. Since some clinical features of MMND overlap with mitochondrial disorders, we analyzed the complete mitochondrial genome of 45 MMND patients and found 396 variations, including 13 disease-associated, 2 mt-tRNA and 33 non-synonymous (16 MT-ND, 10 MT-CO, 3 MT-CYB and 4 MT-ATPase). A rare variant ( ...[more]
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