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01-07-2009 | Letter to the Editor

Central core disease and susceptibility to malignant hyperthermia in a single family

Authors: Lara Colleoni, Giorgia Melli, Lucia Morandi, Paola Cudia, Stefania Romaggi, Renato Mantegazza, Pia Bernasconi

Published in: Journal of Neurology | Issue 7/2009

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]. …

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Title: Central core disease and susceptibility to malignant hyperthermia in a single family
Authors: Lara Colleoni
Giorgia Melli
Lucia Morandi
Paola Cudia
Stefania Romaggi
Renato Mantegazza
Pia Bernasconi
Publication date: 01-07-2009
Publisher: D. Steinkopff-Verlag
Published in: Journal of Neurology / Issue 7/2009
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-009-5051-4

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Central core disease and susceptibility to malignant hyperthermia in a single family

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