Congenital tremor and myopathy secondary to novel MYBPC1 variant.

Congenital myopathy MYBPC1 MYOTREM Myogenic tremor Myosin binding protein-C Tremor

Journal

Journal of the neurological sciences
ISSN: 1878-5883
Titre abrégé: J Neurol Sci
Pays: Netherlands
ID NLM: 0375403

Informations de publication

Date de publication:
04 Jan 2024
Historique:
received: 24 10 2023
revised: 03 12 2023
accepted: 28 12 2023
medline: 8 1 2024
pubmed: 8 1 2024
entrez: 7 1 2024
Statut: aheadofprint

Résumé

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.

Identifiants

DOI: 10.1016/j.jns.2023.122864 PMID: 38185014
pubmed: 38185014
pii: S0022-510X(23)02333-X
doi: 10.1016/j.jns.2023.122864
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

122864

Informations de copyright

Copyright © 2024 Elsevier B.V. All rights reserved.

Auteurs

Heather Leduc-Pessah (H)

Department of Pediatrics, Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. Electronic address: hleducpessah@cheo.on.ca.

Ian C Smith (IC)

Ottawa Hospital Research Institute, Ottawa, ON, Canada.

Kristin D Kernohan (KD)

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

Marcos Sampaio (M)

Department of Radiology, The Ottawa Hospital, Ottawa, ON, Canada.

Gerd Melkus (G)

Department of Radiology, The Ottawa Hospital, Ottawa, ON, Canada.

Lauren Strasser (L)

Department of Pediatrics, Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

Caitlin Chisholm (C)

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

Lijia Huang (L)

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

Ilana Hanes (I)

Department of Pediatrics, Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

My-An Tran (MA)

Department of Pediatrics, Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

Sunita Venkateswaran (S)

Department of Pediatrics, Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

Katherine Muir (K)

Department of Pediatrics, Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

Laurel Charlesworth (L)

Department of Medicine, Neurology, The Ottawa Hospital, Ottawa, ON, Canada.

Jodi Warman-Chardon (J)

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.

Classifications MeSH