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- W3208589875 abstract "Myotonic dystrophy (MyoD) is an inherited genetic disorder caused by the expansion of a CTG trinucleotide repeat in the dystrophia myotonica protein kinase gene. It manifests as a multisystem disease affecting not only skeletal muscles, but also heart, lung, eye, gastrointestinal tract, central nervous system, and endocrine system. However, MyoD is rarely associated with a progressive liver disorder. We report a case of congenital MyoD with combined heterozygous ATP8B1/ABCB4 mutation who developed chronic, progressive low gamma-glutamyltransferase cholestatic liver disease at early infancy, and eventually underwent successful liver transplantation." @default.
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- W3208589875 date "2021-10-25" @default.
- W3208589875 modified "2023-09-23" @default.
- W3208589875 title "Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure" @default.
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- W3208589875 doi "https://doi.org/10.1097/pg9.0000000000000121" @default.
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