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Lookup NU author(s): Dr Louise VB Anderson, Dr Robert Pogue, Dr Angela Pyle, Emerita Professor Katherine Bushby
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Calpainopathy (LGMD2A) is the most common type of autosomal recessive limb-girdle muscular dystrophy. We performed a systematic clinical evaluation in 13 calpainopathy patients from 11 families, with particular attention to the pattern of muscle involvement. Eleven patients had a muscle biopsy with deficiency of calpain 3 on western blotting. The other two patients were not biopsied as they were siblings from the same families. Confirmatory CAPN3 mutations were detected in seven patients. The age at presentation was 2-45 years, wider than previously reported. We confirm the highly characteristic and recognisable phenotype of predominant muscular atrophy with early pelvic girdle involvement, relative sparing of the hip abductors, scapular winging and abdominal laxity. Early primary contractures were also a prominent feature in this group, expanding the breadth of the phenotype. Recognition of the clinical pattern of calpainopathy is of diagnosic significance. It is important, especially in sporadic cases, in targeting and interpreting laboratory investigations in order to provide accurate diagnostic and prognostic information. Copyright © 2001 Elsevier Science B.V.
Author(s): Anderson LVB; Bushby KMD; Pyle A; Pogue R; Pollitt; Davison K
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Year: 2001
Volume: 11
Issue: 3
Pages: 287-296
Print publication date: 01/01/2001
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier
URL: http://dx.doi.org/10.1016/S0960-8966(00)00197-8
DOI: 10.1016/S0960-8966(00)00197-8
PubMed id: 11297944
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