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Report of a pedigree of mitochondrial diabetes mellitus complicated with chronic hereditary pancreatitis / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism ; (12): 752-756, 2021.
Article Dans Chinois | WPRIM | ID: wpr-911382
ABSTRACT
This study reported a family of mitochondrial diabetes mellitus complicated with chronic hereditary pancreatitis. A 18-year-old woman presented with self-reported hyperglycemia and chronic epigastric pain was admitted to our hospital. Clinical data and family history were collected. Mitochondrial gene sequencing and whole exon gene sequencing showed that the proband carried mutation of mt.3243A>G and heterozygous mutation of SPINK1 c. 194+ 2T>C, which was considered as mitochondrial diabetes mellitus with chronic pancreatitis.

Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) langue: Chinois Texte intégral: Chinese Journal of Endocrinology and Metabolism Année: 2021 Type: Article

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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) langue: Chinois Texte intégral: Chinese Journal of Endocrinology and Metabolism Année: 2021 Type: Article