Format

Send to

Choose Destination
Can J Neurol Sci. 2017 May;44(3):304-310. doi: 10.1017/cjn.2016.448. Epub 2017 Feb 9.

Phenotypic Variability of Dystrophinopathy Symptomatic Female Carriers.

Author information

1
1Department of Pathology,SARAH Network of Rehabilitation Hospitals,Belo Horizonte,Minas Gerais,Brazil.
2
2Department of Neurophysiology,SARAH Network of Rehabilitation Hospitals,Belo Horizonte,Minas Gerais,Brazil.
3
3Department of Pediatrics,SARAH Network of Rehabilitation Hospitals,Belo Horizonte,Minas Gerais,Brazil.
4
4Department of Radiology,SARAH Network of Rehabilitation Hospitals,Belo Horizonte,Minas Gerais,Brazil.
5
5Department of Neurology,SARAH Network of Rehabilitation Hospitals,Belo Horizonte,Minas Gerais,Brazil.
6
6Department of Electron Microscopy,SARAH Network of Rehabilitation Hospitals,Brasília,Distrito Federal,Brazil.
7
7Department of Molecular Biology,SARAH Network of Rehabilitation Hospitals,Brasília,Distrito Federal,Brazil.

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.

KEYWORDS:

Xp21; contractures; dystrophinopathy; imaging; rimmed vacuoles; symptomatic carrier

PMID:
28181471
DOI:
10.1017/cjn.2016.448
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Cambridge University Press
Loading ...
Support Center