ArticleMitochondrion2013
Mitochondrial DNA variations in Madras motor neuron disease.
Article in Mitochondrion, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed, 8 citations in OpenAlex.
- Mitochondrial Variants in Pompe Disease: A Comparison between Classic and Non-Classic Forms.Cell journal · 2018Article
- A Madras Motor Neuron Disease Patient With Cerebellar Atrophy: A New Clinical Feature.Frontiers in neuroscience · 2018Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
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 (m.8302A>G) in mt-tRNA(Leu) was found in three patients. We predict that these variation(s) may influence the disease pathogenesis along with some unknown factor(s).
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