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Article

Congenital tremor and myopathy secondary to novel MYBPC1 variant.

Journal of the neurological sciences - 15 Feb 2024

Leduc-Pessah Heather, Smith Ian C, Kernohan Kristin D, Sampaio Marcos, Melkus Gerd, Strasser Lauren, Chisholm Caitlin, Huang Lijia, Hanes Ilana, Tran My-An, Venkateswaran Sunita, Muir Katherine, Charlesworth Laurel, Warman-Chardon Jodi

Abstract excerpt

Congenital myopathy with tremor (MYOTREM) is a recently described disorder characterized by mild myopathy and a postural and intention tremor present since early infancy. MYOTREM is associated with pathogenic variants in MYBPC1 which encodes slow myosin-binding protein C, a sarcomere protein with regulatory and structural roles. Here, we describe a family with three generations of variably affected members...

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PMID: 38185014
DOI: 10.1016/j.jns.2023.122864

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