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Heterozygous Variants in MYBPC1 are Associated with an Expanded Neuromuscular Phenotype beyond Arthrogryposis
Encoding the slow skeletal muscle isoform of Myosin Binding Protein-C, MYBPC1 is associated with autosomal dominant and recessive forms of arthrogryposis. We describe a novel association for MYBPC1 in four patients from three independent families with skeletal muscle weakness, myogenic tremors, and...
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| Pubblicato in: | Hum Mutat |
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| Autori principali: | , , , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6688907/ https://ncbi.nlm.nih.gov/pubmed/31264822 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23760 |
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