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Article

Pancreatic exocrine dysfunction associated with mitochondrial tRNA(Leu)(UUR) mutation.

Journal of medical genetics - 1 Mar 1998

Onishi H, Hanihara T, Sugiyama N, Kawanishi C, Iseki E, Maruyama Y, Yamada Y, Kosaka K, Yagishita S, Sekihara H, Satoh S

Abstract excerpt

We report on pancreatic exocrine dysfunction in families that have the mitochondrial tRNA(Leu)(UUR) gene mutation. These families exhibited maternally inherited diabetes mellitus (DM) and an A to G substitution at nt 3243 of the mitochondrial tRNA(Leu)(UUR) gene (A3243G mutation). Pancreatic necropsy samples from one proband showed accumulation of degenerated mitochondria in pancreatic acinar cells. Pancreatic...

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Identifiers

PMID: 9541116
DOI: 10.1136/jmg.35.3.255
PMCID: PMC1051255

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Source receipt: pubmed, retrieved 7 Sept 2026.

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