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논문KCI 등재

모계 유전된 제2형 당뇨병 및 청각 장애를 보인 MELAS 증후군 1예

A Case of MELAS with Maternally Transmitted Type II Diabetes Mellitus and Deafness

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초록

Abstract

MELAS syndrome is typically a multisystemic disorder. We report one case of MELAS showing both maternally transmitted type II diabetes mellitus (DM) and deafness. A 41-year-old woman was admitted because of severe headache and vomiting. She developed type II DM at age 26 and was followed by bilateral sensorineural type hearing loss at age 37. Family history revealed that her mother and two sisters suffered from similar disorders. MELAS with A3243G point mutation was confirmed in the patient and her daughter.

참고문헌 (9)

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  2. "Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies", 9, pp.527~533 (2002)
  3. "Mutation in mitochondrial tRNA gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness", pp.368~371
  4. "Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA", 340, pp.1376~1379 (1992)
  5. "A case of MELAS with schizophrenia-like psychiatric symptoms", 23, pp.830~832 (2005)
  6. "Nuclear genes in mitochondrial disorders", 13, pp.262~270 (2003)
  7. "An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome", 9, pp.805~809 (2001)
  8. "Stimulation by D-glucose of mitochondrial oxidative events in islet cells", 246, pp.89~95 (1987)
  9. "Mitochondrial deafness", 24, pp.303~313 (2003)

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