{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T07:11:20Z","timestamp":1781075480007,"version":"3.54.1"},"reference-count":65,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T00:00:00Z","timestamp":1662076800000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001711","name":"Swiss National Science Foundation","doi-asserted-by":"crossref","award":["31003A-184765"],"award-info":[{"award-number":["31003A-184765"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001711","name":"Swiss National Science Foundation","doi-asserted-by":"crossref","award":["18GRO-PG24-0271"],"award-info":[{"award-number":["18GRO-PG24-0271"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000765","name":"University College London","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000765","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Medical Research Council"},{"DOI":"10.13039\/501100000272","name":"NIHR","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital myopathies are a group of early onset muscle diseases of variable severity often with characteristic muscle biopsy findings and involvement of specific muscle types. The clinical diagnosis of patients typically relies on histopathological findings and is confirmed by genetic analysis. The most commonly mutated genes encode proteins involved in skeletal muscle excitation\u2013contraction coupling, calcium regulation, sarcomeric proteins and thin\u2013thick filament interaction. However, mutations in genes encoding proteins involved in other physiological functions (for example mutations in SELENON and MTM1, which encode for ubiquitously expressed proteins of low tissue specificity) have also been identified. This intriguing observation indicates that the presence of a genetic mutation impacts the expression of other genes whose product is important for skeletal muscle function. The aim of the present investigation was to verify if there are common changes in transcript and microRNA expression in muscles from patients with genetically heterogeneous congenital myopathies, focusing on genes encoding proteins involved in excitation\u2013contraction coupling and calcium homeostasis, sarcomeric proteins, transcription factors and epigenetic enzymes. Our results identify RYR1, ATPB2B and miRNA-22 as common transcripts whose expression is decreased in muscles from congenital myopathy patients. The resulting protein deficiency may contribute to the muscle weakness observed in these patients. This study also provides information regarding potential biomarkers for monitoring disease progression and response to pharmacological treatments in patients with congenital myopathies.<\/jats:p>","DOI":"10.1093\/braincomms\/fcac224","type":"journal-article","created":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T13:57:46Z","timestamp":1662040666000},"source":"Crossref","is-referenced-by-count":6,"title":["Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies"],"prefix":"10.1093","volume":"4","author":[{"given":"Christoph","family":"Bachmann","sequence":"first","affiliation":[{"name":"Department of Biomedicine, Basel University Hospital , Hebelstrasse 20, Basel 4031 , Switzerland"},{"name":"Department of Neurology, Basel University Hospital , Hebelstrasse 20, Basel 4031 , Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Franchini","sequence":"additional","affiliation":[{"name":"Department 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Radboud University, Nijmegen Medical Centre , Nijmegen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl Christian","family":"Knop","sequence":"additional","affiliation":[{"name":"Muskelhistologisches Labor, Neurologische Abteilung, Asklepios Klinik St. Georg , Lohmuehlenstra\u00dfe 5, Hamburg 20099 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Ruggiero","sequence":"additional","affiliation":[{"name":"Dipartimento di Neuroscienze, Scienze Riproduttive ed Odontostomatologiche, Universit\u00e0 degli Studi di Napoli Federico II , Via Pansini 5, Napoli 80131 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucio","family":"Santoro","sequence":"additional","affiliation":[{"name":"Dipartimento di Neuroscienze, Scienze Riproduttive ed Odontostomatologiche, Universit\u00e0 degli Studi di Napoli Federico II , Via Pansini 5, Napoli 80131 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoram","family":"Nevo","sequence":"additional","affiliation":[{"name":"Institute of Neurology, Schneider Children\u2019s Medical Center of Israel , Petah Tiqva , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo","family":"Wilmshurst","sequence":"additional","affiliation":[{"name":"Paediatric Neurology, Red Cross War Memorial Children\u2019s Hospital, Neuroscience Institute, University of Cape Town , Cape Town , South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[{"name":"Department of Neurology, section 8077, Rigshospitalet, University of Copenhagen , Blegdamsvej 9, Copenhagen DK-2100 , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Sinnreich","sequence":"additional","affiliation":[{"name":"Department of Biomedicine, Basel University Hospital , Hebelstrasse 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