Abstract
Introduction: congenital muscular dystrophies (MDC) are hereditary myopathies characterized by congenital muscular hypotonia, delayed motor development and early onset of progressive muscle weakness. Dystrophic patterns are found in muscular biopsy. Some forms are associated with affections of the brain or eyes. Incidental rate is ca. 2.5–4.5×(10–5). The congenital muscular dystrophy with laminin α 2 -deficiency (MDC1A) counts ca. 30 to 40% of all MDC in Europe. A defect of laminin α 2 affects primarily the basement membrane of the muscular cell.
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