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• W4315436628 abstract "Maturity onset diabetes of the young (MODY) is the most common type of monogenic diabetes, characterized by autosomal dominant inheritance, the age of onset is often <25 years old, and the clinical manifestations are atypical. MODY12 is caused by a rare missense mutation of adenosine triphosphate (ATP)-binding cassette transporter subfamily C member 8 (ABCC8) gene and more than 50 ABCC8 variants were associated with MODY12.The patient was a 30-year-old Chinese Han man. He was overweight with a poor control of blood glucose.The patient was diagnosed with MODY12.The patient was given glimepiride (4 mg/d) with diet and exercise therapy to reduce blood glucose and weight.The level of fasting blood glucose and C-peptide was improved after 1 year treatment as well as body weight.A Chinese Han adult with a heterozygous missense mutation c.3976G > A (p.Glu1326Lys) was diagnosed with MODY12, which was the new pathogenic mutation for the disease. This report expands the spectrum of variants causing MODY12 and reduces misdiagnosis." @default.
• W4315436628 created "2023-01-11" @default.
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• W4315436628 date "2022-12-09" @default.
• W4315436628 modified "2023-10-14" @default.
• W4315436628 title "A case report of maturity-onset diabetes of the young (MODY12) in a Chinese Han patient with a novel ABCC8 gene mutation" @default.
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• W4315436628 doi "https://doi.org/10.1097/md.0000000000032139" @default.
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