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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Publié dans:Hum Mutat
Auteurs principaux: Vandana, Shashi, Geist, Janelle, Lee, Youngha, Yoo, Yongjin, Shin, Unbeom, Schoch, Kelly, Sullivan, Jennifer, Stong, Nicholas, Smith, Edward, Jasien, Joan, Kranz, Peter, Lee, Yoonsung, Shin, Yong Beom, Wright, Nathan T., Choi, Murim, Kontrogianni-Konstantopoulos, Aikaterini
Format: Artigo
Langue:Inglês
Publié: 2019
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Article
Accès en ligne: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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