Heather Leduc-Pessah, Ian C Smith, Kristin D Kernohan, Marcos Sampaio, Gerd Melkus, Lauren Strasser, Caitlin Chisholm, Lijia Huang, Ilana Hanes, My-An Tran, Sunita Venkateswaran, Katherine Muir, Laurel Charlesworth, Jodi Warman-Chardon
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 exhibiting a novel variant in MYBPC1 (c.656 T > C, p.Leu219Pro). Among the unique features of affected family members is the persistence of tremor in sleep...
January 4, 2024: Journal of the Neurological Sciences