Congenital tremor and myopathy secondary to novel MYBPC1 variant

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

doi:10.1016/j.jns.2023.122864

Congenital tremor and myopathy secondary to novel MYBPC1 variant

J Neurol Sci. 2024 Feb 15:457:122864. doi: 10.1016/j.jns.2023.122864. Epub 2024 Jan 4.

Authors

Affiliations

¹ Department of Pediatrics, Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. Electronic address: hleducpessah@cheo.on.ca.
² Ottawa Hospital Research Institute, Ottawa, ON, Canada.
³ Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
⁴ Department of Radiology, The Ottawa Hospital, Ottawa, ON, Canada.
⁵ Department of Pediatrics, Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
⁶ Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
⁷ Department of Medicine, Neurology, The Ottawa Hospital, Ottawa, ON, Canada.
⁸ Ottawa Hospital Research Institute, Ottawa, ON, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; Department of Medicine, Neurology, The Ottawa Hospital, Ottawa, ON, Canada.

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

Abstract

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.

Keywords: Congenital myopathy; MYBPC1; MYOTREM; Myogenic tremor; Myosin binding protein-C; Tremor.

MeSH terms

Family
Humans
Muscular Diseases*
Mutation / genetics
Tremor* / diagnostic imaging
Tremor* / genetics

Substances

myosin-binding protein C