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Titolo:
Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patientwith an A3243G mutation of the mitochondrial DNA
Autore:
Tanaka, K; Takada, Y; Matsunaka, T; Yuyama, S; Fujino, S; Maguchi, M; Yamashita, S; Yuba, I;
Indirizzi:
Saijo Cent Hosp, Dept Internal Med, Saijo, Ehime 7930027, Japan Saijo CentHosp Saijo Ehime Japan 7930027 ed, Saijo, Ehime 7930027, Japan
Titolo Testata:
INTERNAL MEDICINE
fascicolo: 3, volume: 39, anno: 2000,
pagine: 249 - 252
SICI:
0918-2918(200003)39:3<249:DMDMWA>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
KEARNS-SAYRE-SYNDROME; POINT MUTATION; TRNA(LEU(UUR)) GENE; ENDOCRINE DYSFUNCTION; CLINICAL-FEATURES; LACTIC-ACIDOSIS; EPISODES MELAS; SUBTYPE; HYPOPARATHYROIDISM; ENCEPHALOMYOPATHY;
Keywords:
maternal inheritance; hypoparathyroidism; parathyroid hormone;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Tanaka, K Saijo Cent Hosp, Dept Internal Med, 804 Tsuitachi, Saijo, Ehime 7930027, Japan Saijo Cent Hosp 804 Tsuitachi Saijo Ehime Japan 7930027 7, Japan
Citazione:
K. Tanaka et al., "Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patientwith an A3243G mutation of the mitochondrial DNA", INTERN MED, 39(3), 2000, pp. 249-252

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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/20 alle ore 14:55:01