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A case of maternally inherited diabetes and deafness with rhabdomyolysis / 대한내과학회지
Korean Journal of Medicine ; : S112-S116, 2009.
Artículo en Coreano | WPRIM | ID: wpr-105019
ABSTRACT
mutation at position 3,243 in the mtDNA-encoded tRNALeu (UUR) gene is associated with the syndrome of maternally inherited diabetes and deafness (MIDD). It is a rare form of diabetes first described in 1992 characterized by maternal relatives with an early middle-aged onset of diabetes, bilateral sensorineural hearing loss, and a normal or low body mass index. A 37-year-old woman was admitted because of general weakness. She had diabetes mellitus (DM) and deafness. Her mother had DM, her second sister had DM and deafness, and her little brother had DM. The molecular genetic analysis identified the A3243G point mutation. In addition, rhabdomyolysis was diagnosed based on the initial laboratory findings and a whole-body bone scan. We report a case of MIDD with rhabdomyolysis due to a low carbohydrate intake and present it with a literature review.
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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Rabdomiólisis / ARN de Transferencia de Leucina / Índice de Masa Corporal / Mutación Puntual / Sordera / Hermanos / Diabetes Mellitus / Diabetes Mellitus Tipo 2 / Pérdida Auditiva Sensorineural / Biología Molecular Límite: Adulto / Femenino / Humanos Idioma: Coreano Revista: Korean Journal of Medicine Año: 2009 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Rabdomiólisis / ARN de Transferencia de Leucina / Índice de Masa Corporal / Mutación Puntual / Sordera / Hermanos / Diabetes Mellitus / Diabetes Mellitus Tipo 2 / Pérdida Auditiva Sensorineural / Biología Molecular Límite: Adulto / Femenino / Humanos Idioma: Coreano Revista: Korean Journal of Medicine Año: 2009 Tipo del documento: Artículo