Detection of deletion in the dystrophin gene of a patient with quadriceps myopathy.
A 43 year old male presented with slowly progressive weakness of limbs and hypertrophy of triceps, brachioradialis and calf muscles for four years. There was thinning of quadriceps muscles in both thighs. Histological study was compatible with Becker muscular dystrophy (BMD). Genomic DNA analysis showed a deletion of the Hind III fragments, spanning exons 45-47. A junction fragment of 11.0 kb was observed along with a deletion of a 3.4 kb PstI fragment containing exon 51 in the patient, and in one of his two sisters. The clinical and laboratory characteristics in this patient are in keeping with what has been described 'quadriceps myopathy' and fall within the phenotypic variants of BMD as has been shown by others.
Kumari
D
D
Human Molecular Genetics Laboratory, School of Life Sciences, Jawaharlal Nehru University, New Delhi, 110067, India.
Gupta
M
M
Goyle
S
S
D000328:Adult; D004247:DNA / Q000032:analysis / Q000235:genetics; D016189:Dystrophin / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D020133:Reverse Transcriptase Polymerase Chain Reaction
D016189:Dystrophin; D004247:DNA