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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
Arch Neurol 61:106-113, Guis,S.,et al, 2004
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Article Abstract
These results indicate that multiminicore lesions are observed in MHS patients with neither clinical signs related to multiminicore disease nor histological features of congenital myopathies. These multiminicore lesions may be secondary to mutations in the RYR1 gene. As a consequence, these patients must be distinguished from patients with multiminicore disease and from other MHS patients for whom multiminicores are not observed.
 
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arthrogryposis multiplex
congenital myopathy
familial
gene mutation
genetic neurologic disorders
hypotonia
joint hypermobility
malignant hyperpyrexia
multicore myopathy
multiminicore disease
myopathy
ophthalmoplegia
paraspinal muscle weakness
respiratory failure
scoliosis

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