Erschienen in:
01.07.2009 | Letter to the Editor
Central core disease and susceptibility to malignant hyperthermia in a single family
verfasst von:
Lara Colleoni, Giorgia Melli, Lucia Morandi, Paola Cudia, Stefania Romaggi, Renato Mantegazza, Pia Bernasconi
Erschienen in:
Journal of Neurology
|
Ausgabe 7/2009
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Excerpt
Sirs: Central core disease (CCD) is a rare congenital myopathy whose phenotype ranges from asymptomatic to severe muscle weakness. Histologically, type I skeletal muscle fibres predominate and show amorphous myofibrillar cores lacking mitochondria and oxidative enzyme activity. Clinical manifestations include hypotonia, delayed motor milestones, proximal muscle weakness, and skeletal anomalies [
3,
5]. CCD is usually autosomal dominant with variable penetrance, but can be autosomal recessive [
4]. …