Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA.
Intern Med
; 39(3): 249-52, 2000 Mar.
Article
en En
| MEDLINE
| ID: mdl-10772130
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.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
ADN Mitocondrial
/
Mutación Puntual
/
Debilidad Muscular
/
Sordera
/
Diabetes Mellitus
/
Hipocalcemia
Límite:
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
Intern Med
Asunto de la revista:
MEDICINA INTERNA
Año:
2000
Tipo del documento:
Article