Expanding the phenotype of filamin-C-related myofibrillar myopathy.
Clin Neurol Neurosurg
; 176: 30-33, 2019 01.
Article
em En
| MEDLINE
| ID: mdl-30496909
ABSTRACT
We report three patients with a rare filamin C myofibrillar myopathy. They present with atypical symptoms that expand the phenotype of filaminopathy. The new findings are progressive contractures of muscles surrounding the temporomandibular joint, detailed single myofiber histology findings and demonstration of severe affection of paraspinal muscles on MRI.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Músculo Esquelético
/
Miopatias Congênitas Estruturais
/
Filaminas
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Female
/
Humans
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Male
/
Middle aged
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article