Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms

Introduction: Ryanodine receptor gene (RYR1) mutations have been associated with central core disease (CCD), multiminicore/minicore/multicore disease (MmD), and susceptibility to malignant hyperthermia (MH). Methods: Patients with muscle symptoms in adulthood, who had features compatible with CCD/Mm...

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Published in:Muscle & nerve 2011-07, Vol.44 (1), p.102-108
Main Authors: Duarte, Sofia T., Oliveira, Jorge, Santos, Rośrio, Pereira, Pedro, Barroso, Cândida, Conceição, Isabel, Evangelista, Teresinha
Format: Article
Language:English
Subjects:
Adult
adult presentation
Aged
Biological and medical sciences
central core disease
Deltoid Muscle - pathology
Deltoid Muscle - physiology
Diseases of striated muscles. Neuromuscular diseases
Female
Fundamental and applied biological sciences. Psychology
Genes, Dominant - genetics
Genes, Recessive - genetics
Humans
Male
malignant hyperthermia
Malignant Hyperthermia - diagnosis
Malignant Hyperthermia - genetics
Medical sciences
Middle Aged
multiminicore disease
Muscular Diseases - diagnosis
Muscular Diseases - genetics
Mutation - genetics
Myopathy, Central Core - diagnosis
Myopathy, Central Core - genetics
Neurology
Pedigree
Ryanodine Receptor Calcium Release Channel - genetics
RYR1
Striated muscle. Tendons
Vertebrates: osteoarticular system, musculoskeletal system
Young Adult
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Summary:Introduction: Ryanodine receptor gene (RYR1) mutations have been associated with central core disease (CCD), multiminicore/minicore/multicore disease (MmD), and susceptibility to malignant hyperthermia (MH). Methods: Patients with muscle symptoms in adulthood, who had features compatible with CCD/MmD, underwent clinical, histological, and genetic (RYR1 and SEPN1 genes) evaluations. Published cases of CCD and MmD with adult onset were also reviewed. Results: Eight patients fulfilled the criteria for further analysis. Five RYR1 mutations, 4 of them unreported, were detected in 3 patients. Compound heterozygosity was proven in 1 case. Conclusions: To our knowledge, this is the only report of adult onset associated with recessive RYR1 mutations and central core/multiminicores on muscle biopsy. Although adult patients with CCD, MmD, and minimally symptomatic MH with abnormal muscle biopsy findings usually have a mild clinical course, differential diagnosis and carrier screening is crucial for prevention of potentially life‐threatening reactions to general anesthesia. Muscle Nerve 44: 102–108, 2011
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.22009