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Muscle pathology in 31 patients with calpain 3 gene mutations
- Source :
- Neurologia i neurochirurgia polska. 47(3)
- Publication Year :
- 2013
-
Abstract
- Background and purpose At present, more than 20 different forms of limb-girdle muscular dystrophies (LGMDs) are known (at least 7 autosomal dominant and 14 autosomal recessive). Although these different forms show some typical phenotypic characteristics, the existing clinical overlap makes their differential diagnosis difficult. Limb-girdle muscular dystrophy type 2 (LGMD2A) is the most prevalent LGMD in many European as well as Brazilian communities and is caused by mutations in the gene CAPN3. Laboratory testing, such as calpain immunohistochemistry and Western-blot analysis, is not totally reliable, since up to 20% of molecularly confirmed LGMD2A show normal content of calpain 3 and a third of LGMD2A biopsies have normal calpain 3 proteolytic activity in the muscle. Thus, genetic testing is considered as the only reliable diagnostic criterion in LGMD2A. Material and methods In an attempt to find a correlation between genotype and muscle pathology in limb-girdle muscular dystrophy 2A we performed histopathological investigation of a group of 31 patients subdivided according to the type of pathologic CAPN3 gene mutation. Results In all biopsies typical features of muscular dystrophy such as fiber necrosis and regeneration, variation in fiber size and fibrosis were noted. Lobulated fibers were often encountered in the muscle biopsies of LGMD2A patients. Such fibers were more frequent in patients with 550delA mutation. Conclusions These findings may be helpful in establishing diagnostic strategies in LGMD.
- Subjects :
- Male
Pathology
medicine.medical_specialty
Adolescent
Biopsy
Blotting, Western
Muscle Proteins
Gene mutation
medicine.disease_cause
medicine
Humans
Muscular dystrophy
Child
Mutation
Muscle biopsy
medicine.diagnostic_test
biology
business.industry
Calpain
Brain
medicine.disease
Immunohistochemistry
Muscular Dystrophies, Limb-Girdle
Child, Preschool
biology.protein
Surgery
Female
Neurology (clinical)
Differential diagnosis
business
Limb-girdle muscular dystrophy
Subjects
Details
- ISSN :
- 00283843
- Volume :
- 47
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Neurologia i neurochirurgia polska
- Accession number :
- edsair.doi.dedup.....efc1da7ffa7663059fe338180e8b2eaa