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Article

Detection of the A to G(3243) mutation of mitochondrial DNA in Japanese families with mitochondrial encephalomyopathies.

Journal of inherited metabolic disease - 1 Jan 1992

Inui K, Tsukamoto H, Fukushima H, Taniike M, Tanaka J, Nishigaki T, Okada S

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Identifiers

PMID: 1405464
DOI: 10.1007/BF02435964

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Related research

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Detection of the A to G(3243) mutation of mitochondrial DNA in Japanese families with mitochondrial encephalomyopathies.PMID 1405464Read ↗

Identification of a recurrent mitochondrial mutation in a Japanese family with palmoplantar keratoderma, nail dystrophy, and deafness.Semantic proximity Read ↗

Identification of m.3243A>G mitochondrial DNA mutation in patients with cerebellar ataxia.Semantic proximity Read ↗

Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation.Semantic proximity Read ↗

Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies.Semantic proximity Read ↗

Heterogeneity of six children and their mothers with mitochondrial DNA 3243 A>G mutation.Semantic proximity Read ↗

Mitochondrial cardiomyopathy due to m.3243A>G mitochondrial DNA mutation presenting in late adulthood: a case report.Semantic proximity Read ↗

The high prevalence of the diabetic patients with a mutation in the mitochondrial gene in Japan.Semantic proximity Read ↗

Clinical features of mitochondrial DNA m.3243A>G mutation in 47 Chinese families.Semantic proximity Read ↗

Detection of a premutation in Japanese myotonic dystrophy.Semantic proximity Read ↗

Mitochondrial encephalopathy in a patient with a 13042G>A de novo mutation.Semantic proximity Read ↗

Maternally inherited diabetes and deafness with cerebellar ataxia: a new clinical phenotype associated with the mitochondrial DNA 3243 mutation.Semantic proximity Read ↗

Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

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