Congenital Myopathies: An Update
نویسندگان
چکیده
منابع مشابه
Congenital myopathies.
This review focuses on congenital myopathies, a distinct but markedly heterogeneous group of muscle disorders that present with muscle weakness and typically appear at birth or in infancy. These myopathies have characteristic histopathologic abnormalities on muscle biopsy, allowing a preliminary morphologic classification. Advances in molecular genetics have allowed a more rational classificati...
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Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of disease with complex clinical features. The histological features of them usually include various degrees of degenerative changes and inflammatory (usually lymphocytic) infiltrates [1]. Histopathological evaluation is one of the key tools for the diagnosis of IIM. Because of the complexity of clinical, morphological and labor...
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Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present with unspecific histological features, precluding purposive molecular diagnosis and demonstrating the need for an alternative and more efficient di...
متن کاملcongenital myopathies
congenital myopathies are a clinically and genetically heterogeneous group of inherited muscle disorders characterized clinically by reduced fetal movements, hypotonia, weakness and developmental delay beginning at birth or in the first year of life. however, there can be a wide variation in clinical findings including mild and asymptomatic presentation to a severe form within each subtype with...
متن کاملCongenital myopathies and congenital muscular dystrophies.
Congenital myopathies and congenital myopathic dystrophies are distinct groups of inherited diseases of muscle, genetically heterogeneous, that manifest in early life or infancy. Congenital myopathic dystrophy is characterized by a dystrophic pattern, whereas no necrotic or degenerative changes are present in congenital myopathies. Much progress has been made in recent years in clarifying the c...
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ژورنال
عنوان ژورنال: Current Neurology and Neuroscience Reports
سال: 2012
ISSN: 1528-4042,1534-6293
DOI: 10.1007/s11910-012-0255-x