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Novel Mutations in MYBPC1 Are Associated With Myogenic Tremor and Mild Myopathy
OBJECTIVE: To define a distinct, dominantly inherited, mild skeletal myopathy associated with prominent and consistent tremor in two unrelated, three-generation families. METHODS: Clinical evaluations as well as exome and panel sequencing analyses were performed in affected and non-affected members...
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| Pubblicato in: | Ann Neurol |
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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/PMC6685440/ https://ncbi.nlm.nih.gov/pubmed/31025394 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.25494 |
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