P-5 Search for mutations in the RYR1 gene in Italian patients with congenital myopathy
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چکیده
P-5 Search for mutations in the RYR1 gene in Italian patients with congenital myopathy D. Cassandrini, R. Trovato, M. Pane, A. D’Amico, G. Comi, R. Battini, C. Fiorillo, F.M. Santorelli, C. Minetti, C. Bruno; and the Italian Network for Congenital Myopathies IRCCS “Stella Maris”, Pisa, Italy; 1 Policlinico Gemelli, Rome, Italy; 2 IRCCS “Bambin Gesù”, Roma, Italy; 3 Policlinico Maggiore, Milano, Italy; 4 IRCCS “G. Gaslini”, Genova, Italy
منابع مشابه
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P-5 Search for mutations in the RYR1 gene in Italian patients with congenital myopathy D. Cassandrini, R. Trovato, M. Pane, A. D’Amico, G. Comi, R. Battini, C. Fiorillo, F.M. Santorelli, C. Minetti, C. Bruno; and the Italian Network for Congenital Myopathies IRCCS “Stella Maris”, Pisa, Italy; 1 Policlinico Gemelli, Rome, Italy; 2 IRCCS “Bambin Gesù”, Roma, Italy; 3 Policlinico Maggiore, Milano,...
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P-5 Search for mutations in the RYR1 gene in Italian patients with congenital myopathy D. Cassandrini, R. Trovato, M. Pane, A. D’Amico, G. Comi, R. Battini, C. Fiorillo, F.M. Santorelli, C. Minetti, C. Bruno; and the Italian Network for Congenital Myopathies IRCCS “Stella Maris”, Pisa, Italy; 1 Policlinico Gemelli, Rome, Italy; 2 IRCCS “Bambin Gesù”, Roma, Italy; 3 Policlinico Maggiore, Milano,...
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OBJECTIVE Congenital myopathy as a nosologic entity has long been recognized, but knowledge of overall and subtype prevalence and phenotype-genotype relationship is scarce, especially in the adult population. METHODS A national cohort of 107 patients ≥5 years diagnosed with congenital myopathy were prospectively assessed clinically, histologically, and genetically. RESULTS Twenty-five patie...
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Background: Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause congenital bilateral absence of vas deferens. Yet, the spectrum and frequency of CFTR mutations in Indian males with congenital absence of vas deferens (CAVD) is unknown. Materials and Methods: We investigated 50 Indian males, diagnosed with unilateral or bilateral absence of vas deferens at t...
متن کاملMolecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD). More recently, recessive RYR1 mutations have been described in few congenital myopathy patients with variable pathology, including multi-minicores. Although a clinical overlap between patients with dominant and re...
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