Muscular dystrophy associated with β-dystroglycan deficiency

Authors

  • Mustafa A. M. Salih MD,

    Corresponding author
    1. Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    • Department of Pediatrics (39), College of Medicine & KKUH, King Saud University, P.O. Box 2925, Riyadh 11461, Saudi Arabia
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  • Yoshihide Sunada MD, PhD,

    1. Howard Hughes Medical Institute and Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, IA
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  • M. Al-Nasser MD,

    1. Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia
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  • C. O. Ozo MD,

    1. Department of Pathology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
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  • M. H. S. Al-Turaiki PhD,

    1. The Joint Center for Research in Prosthetics and Orthotics and Rehabilitation Programmes, Riyadh, Saudi Arabia
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  • Maksood Akbar PhD,

    1. The Joint Center for Research in Prosthetics and Orthotics and Rehabilitation Programmes, Riyadh, Saudi Arabia
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  • Kevin P. Campbell PhD

    1. Howard Hughes Medical Institute and Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, IA
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Abstract

β-Dystroglycan, a 43-kd transmembrane dystrophinassociated glycoprotein, plays an important role in linking dystrophin to the laminin-binding α-dystroglycan. α-/β-Dystroglycan is encoded by a single gene on chromosome 3p21 and ubiquitously expressed in muscle and nonmuscle tissues. No known human diseases have been mapped to this locus. Here, we describe the selective deficiency of β-dystroglycan in a 4-year-old Saudi boy with muscular dystrophy. The patient had a borderline elevation of serum creatine kinase level and early-onset proximal symmetrical muscle weakness and wasting without calf hypertrophy. The milder phenotype may suggest a secondary deficiency of β-dystroglycan; however, the unique immunofluorescence labeling suggests that the patient may present a novel form of muscular dystrophy.

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