摘要：Congenital myopathies are a heterogeneous group of disorders characterized by muscle weakness and typical histopathological changes at muscle biopsy. In spite of recent advances on molecular genetics, their classification is still based on morphological criteria. Phenotypical and genetic heterogeneicity are common findings. The clinical symptoms usually appear in infancy, but adult-onset cases have been described. In this review, we focus on the current knowledges on congenital myopathies and we report our experience on adult-onset cases.
