Parental mosaicism in RYR1 -related Central Core Disease
نویسندگان
چکیده
منابع مشابه
Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein
BACKGROUND Central Core Disease (CCD) is a congenital myopathy often resulting from a mutation in RYR1 gene. Mutations in RyR1 can increase or decrease channel activity, or induce a reduction in the amount of protein. The consequences of a single mutation are sometimes multiple and the analysis of the functional effects is complex. OBJECTIVE The consequences of the p.Y4864H mutation identifie...
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T he congenital myopathies are a group of disorders that are difficult to distinguish. Diagnosis is frequently dependent on the result of histological examination of muscle biopsy specimens in conjunction with clinical diagnosis. There is a significant degree of overlap in the clinical features of different congenital myopathies: identification of genetic determinants may therefore aid in estab...
متن کاملCentral core disease is due to RYR1 mutations in more than 90% of patients.
Ryanodine receptor 1 (RYR1) gene mutations are associated with central core disease (CCD), multiminicore disease (MmD) and malignant hyperthermia (MH), and have been reported to be responsible for 47-67% of patients with CCD and rare cases with MmD. However, to date, the true frequency and distribution of the mutations along the RYR1 gene have not been determined yet, since mutation screening h...
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We studied seven patients (fetuses/infants) from six unrelated families affected by central core disease (CCD) and presenting with a fetal akinesia syndrome. Two fetuses died before birth (at 31 and 32 weeks) and five infants presented severe symptoms at birth (multiple arthrogryposis, congenital dislocation of the hips, severe hypotonia and hypotrophy, skeletal and feet deformities, kyphoscoli...
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ژورنال
عنوان ژورنال: Neuromuscular Disorders
سال: 2018
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2018.02.011