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, showed unique fine granular pattern of hyperechogenic cardiomyopathy as his brother and their mother did. Although he is...
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