Phenotypic Variability of Dystrophinopathy Symptomatic Female Carriers.
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.
1Department of Pathology,SARAH Network of Rehabilitation Hospitals,Belo Horizonte,Minas Gerais,Brazil.
Ana
A
Cotta
1Department of Pathology,SARAH Network of Rehabilitation Hospitals,Belo Horizonte,Minas Gerais,Brazil.
Julia Filardi
JF
Paim
2Department of Neurophysiology,SARAH Network of Rehabilitation Hospitals,Belo Horizonte,Minas Gerais,Brazil.
Elmano
E
Carvalho
3Department of Pediatrics,SARAH Network of Rehabilitation Hospitals,Belo Horizonte,Minas Gerais,Brazil.
Mônica Machado
MM
Navarro
2Department of Neurophysiology,SARAH Network of Rehabilitation Hospitals,Belo Horizonte,Minas Gerais,Brazil.
Jaquelin
J
Valicek
4Department of Radiology,SARAH Network of Rehabilitation Hospitals,Belo Horizonte,Minas Gerais,Brazil.
Antonio Lopes
AL
da-Cunha-Junior
5Department of Neurology,SARAH Network of Rehabilitation Hospitals,Belo Horizonte,Minas Gerais,Brazil.
Miriam Melo
MM
Menezes
5Department of Neurology,SARAH Network of Rehabilitation Hospitals,Belo Horizonte,Minas Gerais,Brazil.
Simone Vilela
SV
Nunes
5Department of Neurology,SARAH Network of Rehabilitation Hospitals,Belo Horizonte,Minas Gerais,Brazil.
Rafael
R
Xavier-Neto
6Department of Electron Microscopy,SARAH Network of Rehabilitation Hospitals,Brasília,Distrito Federal,Brazil.
Eni Braga
EB
da Silveira
7Department of Molecular Biology,SARAH Network of Rehabilitation Hospitals,Brasília,Distrito Federal,Brazil.
Cynthia
C
Costa-E-Silva
7Department of Molecular Biology,SARAH Network of Rehabilitation Hospitals,Brasília,Distrito Federal,Brazil.
Reinaldo Issao
RI
Takata
5Department of Neurology,SARAH Network of Rehabilitation Hospitals,Belo Horizonte,Minas Gerais,Brazil.
Antonio Pedro
AP
Vargas
D000293:Adolescent; D000328:Adult; D000368:Aged; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000000981:diagnostic imaging* / Q000235:genetics*; D010641:Phenotype; D012189:Retrospective Studies
D016189:Dystrophin
Xp21; contractures; dystrophinopathy; imaging; rimmed vacuoles; symptomatic carrier