Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure

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 nerv...

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Detalles Bibliográficos
Autores principales: Chiou, Fang Kuan, Rizvi, Hina, Quinlivan, Ros, Gupte, Girish L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins, Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10191590/
https://www.ncbi.nlm.nih.gov/pubmed/37206451
http://dx.doi.org/10.1097/PG9.0000000000000121

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10191590/
https://www.ncbi.nlm.nih.gov/pubmed/37206451
http://dx.doi.org/10.1097/PG9.0000000000000121

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