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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 recently treated with insulin, he was initially NIDDM treated by sulfonylurea. His urinary CPR excretion decreased gradually to as low as less than 10 micrograms/day in these 3 years. The insulin response to oral glucose was decreased in all other family members with the mutation. It is suggested that the defective insulin secretion exists in this family with the mutation and the progressive decrease in insulin secretion might resulted in IDDM in the proband.
N Kuzuya, and
M Noda, and
M Fujii, and
Y Kanazawa
April 2002,
Nihon rinsho. Japanese journal of clinical medicine,
N Kuzuya, and
M Noda, and
M Fujii, and
Y Kanazawa
August 1992,
Nature genetics,
N Kuzuya, and
M Noda, and
M Fujii, and
Y Kanazawa
October 1998,
American journal of human genetics,
N Kuzuya, and
M Noda, and
M Fujii, and
Y Kanazawa
June 1993,
Rinsho shinkeigaku = Clinical neurology,
N Kuzuya, and
M Noda, and
M Fujii, and
Y Kanazawa
January 2004,
International journal of clinical pharmacology research,
N Kuzuya, and
M Noda, and
M Fujii, and
Y Kanazawa
April 1992,
Nature genetics,
N Kuzuya, and
M Noda, and
M Fujii, and
Y Kanazawa
January 1998,
Nederlands tijdschrift voor geneeskunde,
N Kuzuya, and
M Noda, and
M Fujii, and
Y Kanazawa
January 2024,
African journal of laboratory medicine,
N Kuzuya, and
M Noda, and
M Fujii, and
Y Kanazawa
July 2009,
Archivos de la Sociedad Espanola de Oftalmologia,
N Kuzuya, and
M Noda, and
M Fujii, and
Y Kanazawa
August 2004,
Ugeskrift for laeger,
