Central core disease: new findings in an old disease

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Central core disease

Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown but the condition is probably more common than other congenital myopathies. CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness pr...

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ژورنال

عنوان ژورنال: Brain

سال: 2003

ISSN: 1460-2156

DOI: 10.1093/brain/awg288