Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype.
OBJECTIVE
Limb girdle muscular dystrophy (LGMD) is a diverse group of myopathic disorders characterized by proximal muscle weakness and hyperCKemia. Mutations encoding sarcoglycans and numerous other proteins have been shown to be responsible for most cases. We report a series of girls with a negative family history for boys with Duchenne muscular dystrophy, demonstrating an LGMD phenotype associated with dystrophinopathy.


METHODS
A retrospective chart review of all girls presenting with the LGMD phenotype to our clinic between January 2001 and September 2007 was conducted. Patients 18 years old or younger with dystrophinopathy proven by muscle biopsy and/or gene mutations and a negative family history for affected boys were included in the review.


RESULTS
Five patients, 4 to 10 years of age at presentation, were included in the series. Four had an LGMD phenotype at presentation. All five patients had hyperCKemia, all five patients had gene mutations, and four patients had muscle biopsy consistent with dystrophinopathy.


CONCLUSIONS
Dystrophinopathy is an important cause of LGMD phenotype in girls and should be considered in the differential diagnosis.
Golla
Sailaja
S
Department of Pediatrics, University of Texas Southwestern Medical Center at Dallas, Dallas, TX 75390, USA. sailaja.golla@childrens.com
Agadi
Satish
S
Burns
Dennis K
DK
Marks
Warren
W
Dev Batish
Sat
S
del Gaudio
Daniela
D
Iannaccone
Susan T
ST
D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D010641:Phenotype; D012189:Retrospective Studies
D016189:Dystrophin