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A case of maternally inherited diabetes and deafness with rhabdomyolysis / 대한내과학회지
Korean Journal of Medicine ; : S112-S116, 2009.
Artigo em 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.
Assuntos

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Rabdomiólise / RNA de Transferência de Leucina / Índice de Massa Corporal / Mutação Puntual / Surdez / Irmãos / Diabetes Mellitus / Diabetes Mellitus Tipo 2 / Perda Auditiva Neurossensorial / Biologia Molecular Limite: Adulto / Feminino / Humanos Idioma: Coreano Revista: Korean Journal of Medicine Ano de publicação: 2009 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Rabdomiólise / RNA de Transferência de Leucina / Índice de Massa Corporal / Mutação Puntual / Surdez / Irmãos / Diabetes Mellitus / Diabetes Mellitus Tipo 2 / Perda Auditiva Neurossensorial / Biologia Molecular Limite: Adulto / Feminino / Humanos Idioma: Coreano Revista: Korean Journal of Medicine Ano de publicação: 2009 Tipo de documento: Artigo