Article
Differential diagnosis of congenital muscular dystrophies.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2008
Klein Andrea, Clement Emma, Mercuri Eugenio, Muntoni Francesco
Abstract excerpt
Congenital muscular dystrophies (CMDs) are defined by signs of muscle weakness in the first 6 months of life with myopathic changes in muscle biopsy. The progress in the last decade has helped to make molecular and genetic diagnoses in the majority of patients fulfilling these criteria. In a number of patients a definite diagnosis cannot be reached and these individuals are often grouped together as "merosin...
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