Article

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.
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Langue : ANGLAIS