%0 Journal Article
%T Congenital tremor and myopathy secondary to novel MYBPC1 variant.
%A Leduc-Pessah H
%A Smith IC
%A Kernohan KD
%A Sampaio M
%A Melkus G
%A Strasser L
%A Chisholm C
%A Huang L
%A Hanes I
%A Tran MA
%A Venkateswaran S
%A Muir K
%A Charlesworth L
%A Warman-Chardon J
%J J Neurol Sci
%V 457
%N 0
%D 2024 Feb 15
%M 38185014
%F 4.553
%R 10.1016/j.jns.2023.122864
%X 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. We also present the first muscle magnetic resonance images for this disorder, and report muscle atrophy and fatty infiltration.