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Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

Lookup NU author(s): Dr Robert Pogue, Dr Louise VB Anderson, Dr Angela Pyle, Jennifer Moss, Emerita Professor Katherine Bushby

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Abstract

We describe a strategy for molecular diagnosis in the autosomal recessive Limb-girdle muscular dystrophies, a highly heterogeneous group of inherited muscle-wasting diseases. Genetic mutation analysis is directed by immunoanalysis of muscle biopsies using antibodies against a panel of muscular dystrophy-associated proteins. Performing the molecular analysis in this way greatly increases the chance that mutations will be found in the first gene examined. The use of this strategy can significantly decrease the time involved in determining the genetic fault in a patient with a clinical diagnosis of recessive limb-girdle muscular dystrophy, as well as having a feedback effect, which is useful in helping clinicians to identify subtle clinical differences between the subtypes of the disease. The use of this approach has so far helped us to identify mutations in ten sarcoglycanopathy (limb-girdle muscular dystrophy 2C-2F) patients, and seven calpainopathy (Limb-girdle muscular dystrophy 2A) patients. (C) 2000 Elsevier Science B.V. All rights reserved.

Publication metadata

Author(s): Pogue R, Anderson LVB, Pyle A, Sewry C, Pollitt C, Johnson MA, Davison K, Moss JA, Mercuri E, Muntoni F, Bushby KMD

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2001

Volume: 11

Issue: 1

Pages: 80-87

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier

URL: http://dx.doi.org/10.1016/S0960-8966(00)00154-1

DOI: 10.1016/S0960-8966(00)00154-1

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