Myofibrillar myopathies due to a novel mutation in exon 8 of the LDB3 gene.
Int J Rheum Dis
; 27(2): e15036, 2024 Feb.
Article
em En
| MEDLINE
| ID: mdl-38333999
ABSTRACT
Myofibrillar myopathies (MFMs) are a group of genetically heterogeneous diseases affecting the skeletal and cardiac muscles. Myofibrillar myopathies are characterized by focal lysis of myogenic fibers and integration of degraded myogenic fiber products into inclusion bodies, which are typically rich in desmin and many other proteins. Herein, we report a case of a 54-year-old woman who experienced bilateral thigh weakness for over three years. She was diagnosed with MFMs based on muscle biopsy findings and the presence of a novel mutation in exon 8 of the LDB3 gene. Myofibrillar myopathies caused by a mutation in the LDB3 gene are extremely uncommon and often lack distinct clinical characteristics and typically exhibit a slow disease progression. When considering a diagnosis of MFMs, particularly in complex instances of autosomal dominant myopathies where muscle biopsies do not clearly indicate MFMs, it becomes crucial for clinicians to utilize genetic test as a diagnostic tool.
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Base de dados:
MEDLINE
Assunto principal:
Miopatias Congênitas Estruturais
/
Miofibrilas
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article