An unusual variant of Becker muscular dystrophy

1 May 1990

journal article
research article
Published by Wiley in Annals of Neurology

Vol. 27 (5) , 578-581
https://doi.org/10.1002/ana.410270521

Abstract

We report on 5 brothers with slowly progressive limbgirdle weakness. Calf hypertrophy was absent. The levels of creatine kinase, electromyography, and findings from a muscle biopsy specimen were compatible with muscular dystrophy. The propositus's biopsy specimen also showed numerous rimmed vacuoles. DNA analysis revealed a deletion in the dystrophin gene, establishing a diagnosis of Becker muscular dystrophy. Both the absence of calf hypertrophy and the presence of rimmed vacuoles are unusual features in this disorder.

Keywords

This publication has 14 references indexed in Scilit:

DNA restriction fragment length polymorphisms in differential diagnosis of genetic disease: application in neuromuscular diseases
Human Genetics, 1989
Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies
Neurology, 1989
Dystrophin: The protein product of the duchenne muscular dystrophy locus
Cell, 1987
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
Cell, 1987
Differential diagnosis of genetic disease by DNA restriction fragment length polymorphisms
Clinica Chimica Acta; International Journal of Clinical Chemistry, 1987
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy
Nature, 1986
Computed tomography of the skeletal musculature in Becker‐type muscular dystrophy and benign infantile spinal muscular atrophy
Muscle & Nerve, 1985
Histopathological Findings in Becker-Type Muscular Dystrophy
Archives of Neurology, 1984
Becker's X-linked muscular dystrophy histological, enzyme-histochemical, and ultrastructural studies of two cases, originally reported by Becker
Acta Neuropathologica, 1979
Becker‐type muscular dystrophy
Muscle & Nerve, 1978