An unusual variant of Becker muscular dystrophy

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.

[1]  C. van Broeckhoven,et al.  Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. , 1989, American journal of human genetics.

[2]  L. Kunkel,et al.  The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. , 1989, American journal of human genetics.

[3]  C. Caskey,et al.  Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies , 1989, Neurology.

[4]  P. Dean,et al.  X‐Linked myopathy with excessive autophagy: A new hereditary muscle disease , 1988, Annals of neurology.

[5]  A. de la Chapelle,et al.  Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq. , 1988, American journal of human genetics.

[6]  Eric P. Hoffman,et al.  Dystrophin: The protein product of the duchenne muscular dystrophy locus , 1987, Cell.

[7]  M. Koenig,et al.  Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals , 1987, Cell.

[8]  P. Bolhuis,et al.  Differential diagnosis of genetic disease by DNA restriction fragment length polymorphisms. , 1987, Clinica chimica acta; international journal of clinical chemistry.

[9]  J. Edwards,et al.  Adult‐onset autosomal dominant limb‐girdle muscular dystrophy , 1986, Annals of neurology.

[10]  L. Kunkel,et al.  Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy , 1986, Nature.

[11]  M. de Visser,et al.  Computed tomography of the skeletal musculature in Becker‐type muscular dystrophy and benign infantile spinal muscular atrophy , 1985, Muscle & nerve.

[12]  M. Visser,et al.  Histopathological findings in Becker-type muscular dystrophy. , 1984 .

[13]  Z. Argov,et al.  “Rimmed vacuole myopathy” sparing the quadriceps A unique disorder in iranian jews , 1984, Journal of the Neurological Sciences.

[14]  W. Bradley,et al.  Becker‐type muscular dystrophy , 1978, Muscle & nerve.