A patient with severe central core disease
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منابع مشابه
A patient with severe central core disease.
Editor—We report a case of a 19-yr-old primigravida who was referred to our tertiary obstetric unit at 37 weeks gestation. She was known to have skeletal muscle weakness since birth and had a history of delayed motor milestones as a child. Myopathy of an unknown aetiology had been suspected since early childhood. Additionally, after sudden cardiac deaths of the patient’s father and brother, con...
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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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Central core disease is a rare congenital myopathy characterized by the formation of "cores" that consist of abnormal arrangement of myofibrils inside the myofibers. We report a 5-year-old Korean girl who showed a fairly typical clinical course of non-progressive muscle weakness. Electrodiagnostic studies showed low-amplitude polyphasic electromyograph and normal nerve conduction velocity. Gast...
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ژورنال
عنوان ژورنال: British Journal of Anaesthesia
سال: 2008
ISSN: 0007-0912
DOI: 10.1093/bja/aen198