[A pedigree with maternally transmitted diabetes mellitus, deafness and cardiomyopathy].

Article

[A pedigree with maternally transmitted diabetes mellitus, deafness and cardiomyopathy].

Nihon rinsho. Japanese journal of clinical medicine - 1 Oct 1994

Kuzuya N, Noda M, Fujii M, Kanazawa Y

Abstract excerpt

A pedigree with maternally transmitted diabetes mellitus, deafness, and cardiomyopathy is described. A A-->G mutation at nucleotide pair 3243 in mitochondrial gene was detected by Apa I digestion of PCR amplified genomic DNA from 3 brothers and their mother. The proband, suffering from CHF, showe...

Topics

Adult
Cardiomyopathies
DNA, Mitochondrial
Deafness
Diabetes Mellitus
Humans
Insulin
Insulin Secretion
Male
Mitochondria
Mutation
Pedigree

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