Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
Y NilipourH Tajsharghi

Abstract

Nemaline myopathy (NEM) has been associated with mutations in 12 genes to date. However, for some patients diagnosed with NEM, definitive mutations are not identified in the known genes, suggesting that there are other genes involved. This study describes compound heterozygosity for rare variants in ryanodine receptor type 3 (RYR3) gene in one such patient. Clinical examination of the patient at 22 years of age revealed a long narrow face, high arched palate and bilateral facial weakness. She had proximal weakness in all four limbs, mild scapular winging but no scoliosis. Muscle biopsy revealed wide variation in fibre size with type 1 fibre predominance and atrophy. Abundant nemaline bodies were located in perinuclear and subsarcolemmal areas, and within the cytoplasm. No likely pathogenic mutations in known NEM genes were identified. Copy number variation in known NEM genes was excluded by NEM-targeted comparative genomic hybridization array. Next-generation sequencing revealed compound heterozygous missense variants in the RYR3 gene. RYR3 transcripts are expressed in human fetal and adult skeletal muscle as well as in human brain and cauda equina samples. Immunofluorescence of human skeletal muscle revealed a 'single-row' app...Continue Reading

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Citations

Jan 12, 2019·F1000Research·Gianina RavenscroftNigel G Laing
May 28, 2020·International Journal of Molecular Sciences·George Konstantinos PapadimasConstantinos Papadopoulos
Jun 23, 2019·Journal of Muscle Research and Cell Motility·Caroline A SewryCarina Wallgren-Pettersson
Mar 11, 2020·Annals of Clinical and Translational Neurology·Sarah J BeecroftNigel G Laing
Nov 5, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Matthias PergandeSebahattin Cirak
Oct 17, 2020·Journal of Neuropathology and Experimental Neurology·Yiming ZhengYun Yuan
Dec 31, 2020·Neuromuscular Disorders : NMD·Maria L RochaBenjamin Englert

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