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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Vydáno v:Ann Neurol
Hlavní autoři: Stavusis, Janis, Lace, Baiba, Schäfer, Jochen, Geist, Janelle, Inashkina, Inna, Kidere, Dita, Pajusalu, Sander, Wright, Nathan T., Saak, Annika, Weinhold, Manja, Haubenberger, Dietrich, Jackson, Sandra, Kontrogianni-Konstantopoulos, Aikaterini, Bönnemann, Carsten G.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
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On-line přístup: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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