Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy.
J Neuromuscul Dis
; 6(1): 143-146, 2019.
Article
em En
| MEDLINE
| ID: mdl-30372688
ABSTRACT
TRIM63 mutations have been described as a potential cause for cardiac and skeletal myopathy in only one family so far. We describe a new patient carrying the same homozygous TRIM63 nonsense mutation c.739 C>T p.Q247X, that was originally reported in two members of a Spanish family manifesting cardiac hypertrophy. One of these original patients also had an additional heterozygous mutation in TRIM54 and a much more severe phenotype also involving skeletal muscles, and a digenic inheritance was therefore suggested. Our case report confirms the role of TRIM63 as a new cardiac myopathy gene, although it is unclear whether the homozygous p.Q247X mutation alone is sufficient to cause an additional skeletal myopathy.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cardiomegalia
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Códon sem Sentido
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Ubiquitina-Proteína Ligases
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Proteínas com Motivo Tripartido
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Proteínas Musculares
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Doenças Musculares
Tipo de estudo:
Diagnostic_studies
Limite:
Aged
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Female
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Humans
Idioma:
En
Revista:
J Neuromuscul Dis
Ano de publicação:
2019
Tipo de documento:
Article