Muscular dystrophy associated with beta-Dystroglycan deficiency.
beta-Dystroglycan, a 43-kd transmembrane dystrophin-associated glycoprotein, plays an important role in linking dystrophin to the laminin-binding alpha-dystroglycan. alpha-/beta-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 beta-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 beta-dystroglycan; however, the unique immunofluorescence labeling suggests that the patient may present a novel form of muscular dystrophy.
Salih
M A
MA
Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Sunada
Y
Y
Al-Nasser
M
M
Ozo
C O
CO
Al-Turaiki
M H
MH
Akbar
M
M
Campbell
K P
KP
D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000172:deficiency*; D049030:Dystroglycans; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency*; D009136:Muscular Dystrophies / Q000378:metabolism*
D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D008562:Membrane Glycoproteins; D049030:Dystroglycans