Journal article
Muscular dystrophy associated with β‐dystroglycan deficiency
Annals of neurology, Vol.40(6), pp.925-928
12/1996
DOI: 10.1002/ana.410400617
PMID: 9007100
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.
Details
- Title: Subtitle
- Muscular dystrophy associated with β‐dystroglycan deficiency
- Creators
- Mustafa A. M SalihYoshihide SunadaM Al‐NasserC. O OzoM. H. S Al‐TuraikiMaksood AkbarKevin P Campbell
- Resource Type
- Journal article
- Publication Details
- Annals of neurology, Vol.40(6), pp.925-928
- Publisher
- Wiley Subscription Services, Inc., A Wiley Company; Hoboken
- DOI
- 10.1002/ana.410400617
- PMID
- 9007100
- ISSN
- 0364-5134
- eISSN
- 1531-8249
- Number of pages
- 4
- Language
- English
- Date published
- 12/1996
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984020744902771
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