Diabetes Mellitus, Deafness, Muscle Weakness and Hypocalcemia in a Patient with an A3243G Mutation of the Mitochondrial DNA

Kiyonobu TANAKA; Yasuharu TAKADA; Tsuyoshi MATSUNAKA; Susumu YUYAMA; Shun FUJINO; Motofumi MAGUCHI; Shogo YAMASHITA; Ideo YUBA

doi:10.2169/internalmedicine.39.249

Kiyonobu TANAKA, Yasuharu TAKADA, Tsuyoshi MATSUNAKA, Susumu YUYAMA, Shun FUJINO, Motofumi MAGUCHI, Shogo YAMASHITA, Ideo YUBA

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Keywords: maternal inheritance, hypoparathyroidism, parathyroid hormone

JOURNAL FREE ACCESS

2000 Volume 39 Issue 3 Pages 249-252

DOI https://doi.org/10.2169/internalmedicine.39.249

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Abstract

In a 54-year-old woman with diabetes mellitus, hearing loss, muscle weakness and hypocalcemia, caused by idiopathic hypoparathyroidism, an A to G transition at the nucleotide position of 3243 (A3243G mutation) was found in the mitochondrial DNA from her leukocytes. Clinical features of diabetes mellitus and hearing loss in association with the A3243G mutation are compatible with a diagnosis of maternally inherited diabetes and deafness (MIDD). Although hypoparathyroidism is rarely seen in MIDD, we consider that hypoparathyroidism in this patient is a possible phenotype caused by the A3243G mutation of mitochondrial DNA.
(Internal Medicine 39: 249-252, 2000)

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