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Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle Symptoms
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Orientador(es)
Resumo(s)
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.
Descrição
Palavras-chave
Adult Aged Deltoid Muscle Female Genes, Dominant Genes, Recessive Humans Male Malignant Hyperthermia Middle Aged Muscular Diseases Mutation Myopathy, Central Core Pedigree Ryanodine Receptor Calcium Release Channel Young Adult HDE NEU PED
Contexto Educativo
Citação
Muscle Nerve. 2011 Jul;44(1):102-8
Editora
Wiley Periodicals, Inc.