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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins, Inc.
2021
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| Materias: | |
| 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 |