Phenotypic Variability of Dystrophinopathy Symptomatic Female Carriers.
Can J Neurol Sci
; 44(3): 304-310, 2017 May.
Article
em En
| MEDLINE
| ID: mdl-28181471
ABSTRACT
BACKGROUND:
Dystrophinopathies are X-linked muscular dystrophies characterized by pathogenic mutations in the dystrophin gene. Symptomatic dystrophinopathy female carriers may present with limb-girdle weakness. The diagnosis may be challenging in the absence of affected male relatives. We aimed to describe the phenotypic variability in a series of molecular-confirmed female dystrophinopathy patients.METHODS:
This is a retrospective analysis of medical records from 1997 to 2015.RESULTS:
Ten female dystrophinopathy patients were selected, two with unusual phenotypes one with early joint contractures muscular dystrophy and the other with very late onset myopathy. Muscle imaging studies demonstrated predominant asymmetric fat replacement. Muscle biopsy immunohistochemistry demonstrated clear mosaic pattern in two cases and only subtle reduction of dystrophin intensity in three.CONCLUSIONS:
Adequate diagnosis is fundamental for genetic counseling and cardiologic follow-up. Female patients with dystrophinopathy may present unusual phenotypes such as early contractures and very late onset myopathy.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Distrofina
/
Heterozigoto
/
Distrofias Musculares
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
Limite:
Adolescent
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Adult
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Aged
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Female
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Humans
/
Middle aged
Idioma:
En
Revista:
Can J Neurol Sci
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Brasil