Author(s): Eymard B, Lvy N
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Abstract Limb-girdle muscular dystrophies represent a major chapter of genetic myopathies. Many different entities have been identified, most of them with recessive transmission, a minority with dominant heredity. Diagnostic strategy is presented, based on clinical analysis, muscle biopsy revealing in most cases a specific protein deficiency and gene screening, the golden standard, showing the deleterious mutations. Identification may be difficult due to the relatively poor specificity of the clinical and histological features and to the absence of specific protein deficiency and/or causative mutations. A comprehensive discussion of these difficult cases is proposed. Copyright © 2012 Elsevier Masson SAS. All rights reserved.
This article was published in Rev Neurol (Paris)
and referenced in Journal of Molecular Biomarkers & Diagnosis