Congenital tremor and myopathy secondary to novel MYBPC1 variant.
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