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Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies
Umeå universitet, Medicinska fakulteten, Institutionen för integrativ medicinsk biologi (IMB). Umeå universitet, Medicinska fakulteten, Institutionen för klinisk vetenskap, Oftalmiatrik.ORCID-id: 0000-0003-2369-4319
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2018 (Engelska)Ingår i: European Journal of Neurology, ISSN 1351-5101, E-ISSN 1468-1331, Vol. 25, nr 6, s. 841-847Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

BACKGROUND AND PURPOSE: 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.

METHODS AND RESULTS: 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' appearance of RYR3, interspersed between the 'double rows' of ryanodine receptor type 1 (RYR1) at each A-I junction.

CONCLUSION: The results suggest that variants in RYR3 may cause a recessive muscle disease with pathological features including nemaline bodies. We characterize the expression pattern of RYR3 in human skeletal muscle and brain, and the subcellular localization of RYR1 and RYR3 in human skeletal muscle.

Ort, förlag, år, upplaga, sidor
2018. Vol. 25, nr 6, s. 841-847
Nyckelord [en]
RYR3, intracellular Ca2+ channels, nemaline myopathy, ryanodine receptors
Nationell ämneskategori
Endokrinologi och diabetes
Identifikatorer
URN: urn:nbn:se:umu:diva-146323DOI: 10.1111/ene.13607ISI: 000431989200012PubMedID: 29498452Scopus ID: 2-s2.0-85044433098OAI: oai:DiVA.org:umu-146323DiVA, id: diva2:1195330
Tillgänglig från: 2018-04-05 Skapad: 2018-04-05 Senast uppdaterad: 2023-06-26Bibliografiskt granskad

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Tjust, Anton E.Pedrosa Domellöf, Fatima

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Tjust, Anton E.Pedrosa Domellöf, Fatima
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Institutionen för integrativ medicinsk biologi (IMB)Oftalmiatrik
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European Journal of Neurology
Endokrinologi och diabetes

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