| 1 | MT-TN, MTMPEI
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| Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene.
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| Bruno C, Cassandrini D, Fattori F, Pedemonte M, Fiorillo C, Brigati G, Brisca G, Minetti C, Santorelli FM.
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| Biochem Biophys Res Commun 412(4):518-21. Epub 2011 Jun 29.
2011
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| 2 | MT-CYB, MTMPEI
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| A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria.
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| Andreu AL, Bruno C, Dunne TC, Tanji K, Shanske S, Sue CM, Krishna S, Hadjigeorgiou GM, Shtilbans A, Bonilla E, DiMauro S.
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| Ann Neurol 45(1):127-30.
1999
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| 3 | MT-CYB, MTMPEI
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| Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA.
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| Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, Tanji K, Pallotti F, Iwata S, Bonilla E, Lach B, Morgan-Hughes J, DiMauro S.
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| N Engl J Med 341(14):1037-44.
1999
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| 4 | MTMPEI
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| A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance.
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| Dumoulin R, et al.
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| Mol Cell Probes 10 : 389-391. 1996
|