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المؤلفون: Voermans, Nicol C., Oldfors, Anders, 1951, Jungbluth, Heinz
المصدر: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition: Volume 2. :575-587
مصطلحات موضوعية: Clinical Medicine, Klinisk medicin, central core disease (CCD), congenital fiber-type disproportion (CFTD), Congenital myopathy (CM), multiminicore disease (MmD), myotubular/centronuclear myopathy (MTM/CNM), nemaline myopathy (NM), skeletal muscle ryanodine receptor (RYR1) gene, titin (TTN) gene
URL الوصول: https://gup.ub.gu.se/publication/346186
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المؤلفون: Susan Treves, Sven Nicolay, Pawel Pelczar, Moran Elbaz, Alexis Ruiz, Chiara Tupini, Francesco Zorzato, Jan Eckhardt, Christoph Bachmann, Sofia Benucci
المصدر: J Biol Chem
مصطلحات موضوعية: 0301 basic medicine, Male, Mutation, Missense, Biology, Compound heterozygosity, Biochemistry, calcium release channel, NO, 03 medical and health sciences, Mice, slow-twitch muscles, LS4_1, medicine, Missense mutation, Animals, Muscle Strength, Allele, Centronuclear myopathy, LS7_6, Molecular Biology, ryanodine receptor (RyR), mutations, slow-twitch muscles, monoallelic versus bi-allelic, muscle strength, myopathy, skeletal muscle disease, calcium release channel, multiminicore disease (MmD), RYR1, multiminicore disease (MmD), skeletal muscle disease, 030102 biochemistry & molecular biology, Molecular Bases of Disease, Ryanodine Receptor Calcium Release Channel, Cell Biology, Congenital fiber type disproportion, ryanodine receptor (RyR), mutations, medicine.disease, musculoskeletal system, Molecular biology, monoallelic versus bi-allelic, Mice, Mutant Strains, 030104 developmental biology, Muscle Fibers, Slow-Twitch, Amino Acid Substitution, Gene Expression Regulation, Mutation (genetic algorithm), Central core disease, myopathy