Muscular dystrophy associated with beta-Dystroglycan deficiency

Annals of Neurology
M A SalihK P Campbell

Abstract

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.

References

Feb 1, 1983·Developmental Medicine and Child Neurology·M A SalihM Johnson
Nov 10, 1995·The Journal of Biological Chemistry·D JungK P Campbell

❮ Previous
Next ❯

Citations

Jun 8, 2000·Developmental Dynamics : an Official Publication of the American Association of Anatomists·H Colognato, P D Yurchenco
Feb 13, 2001·Trends in Biochemical Sciences·S J Winder
Jul 30, 2005·Neuromuscular Disorders : NMD·Patrick Reed, Robert J Bloch
Feb 19, 2000·Microscopy Research and Technique·S C WatkinsL Billington
Mar 20, 2016·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Séverine M SigoillotClaire Legay

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cardiac Cachexia

Cardiac cachexia is a syndrome associated with the progressive loss of muscle and fat mass. It most commonly affects patients with heart failure and can significantly decrease the quality of life and survival in these patients. Here is the latest research on cardiac cachexia.

Cachexia & Brown Fat

Cachexia is a condition associated with progressive weight loss due to severe illness. In cancer patients, it is proposed to occur as a result of tumor-induced energy wasting. Several proteins have been implicated in browning and depletion of white adipose tissue. Here is the latest research on cachexia and brown fat.