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Volumn 20, Issue 2, 1997, Pages 221-225

Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt.3243 of mitochondrial DNA (MELAS mutation)

Author keywords

cardiomyopathy; maternal inheritance; MELAS mutation

Indexed keywords

ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; EXTRACHROMOSOMAL INHERITANCE; FEMALE; GENE MUTATION; HUMAN; MALE; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

EID: 0031053733     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199702)20:2<221::AID-MUS13>3.0.CO;2-5     Document Type: Article
Times cited : (55)

References (11)
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  • 2
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    • Hasegawa, H.1    Matsuoka, T.2    Goto, Y.3    Nonaka, I.4
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    • Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt.3243
    • Petruzzella V, Moraes CT, Sano MC, Bonilla E, DiMauro S, Schon EA: Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt.3243. Hum Mol Genet 1994;3:449-454.
    • (1994) Hum Mol Genet , vol.3 , pp. 449-454
    • Petruzzella, V.1    Moraes, C.T.2    Sano, M.C.3    Bonilla, E.4    Dimauro, S.5    Schon, E.A.6
  • 7
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    • Oxidative phosphorylation diseases: Disorders of two genomes
    • Harris H, Hirshhorn K (eds): New York, Plenum Press
    • Shoffner JM, Wallace DC: Oxidative phosphorylation diseases: disorders of two genomes, in Harris H, Hirshhorn K (eds): Advances in Human Genetics. New York, Plenum Press, 1990, vol 19, pp 267-330.
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    • Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7
    • Vilkki J, Ott J, Savontaus M-L, Aula P, Nikoskelainen EK: Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7. Am J Hum Genet 1991;48:486-491.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.