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Congenital tremor and myopathy secondary to novel MYBPC1 variant.
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.
Afiliação
  • Leduc-Pessah H; Department of Pediatrics, Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. Electronic address: hleducpessah@cheo.on.ca.
  • Smith IC; Ottawa Hospital Research Institute, Ottawa, ON, Canada.
  • 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.
  • Sampaio M; Department of Radiology, The Ottawa Hospital, Ottawa, ON, Canada.
  • Melkus G; Department of Radiology, The Ottawa Hospital, Ottawa, ON, Canada.
  • Strasser L; Department of Pediatrics, Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Chisholm C; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Huang L; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Hanes I; Department of Pediatrics, Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Tran MA; Department of Pediatrics, Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Venkateswaran S; Department of Pediatrics, Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Muir K; Department of Pediatrics, Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Charlesworth L; Department of Medicine, Neurology, The Ottawa Hospital, Ottawa, ON, Canada.
  • 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.
J Neurol Sci ; 457: 122864, 2024 Feb 15.
Article em En | MEDLINE | ID: mdl-38185014
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tremor / Doenças Musculares Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tremor / Doenças Musculares Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article