{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["22(1)"],"submitter":["Hedberg-Oldfors C"],"funding":["University of Gothenburg"],"pubmed_abstract":["<h4>Background</h4>Myosin heavy chain (MyHC) isoforms define the three major muscle fiber types in human extremity muscles. Slow beta/cardiac MyHC (MYH7) is expressed in type 1 muscle fibers. MyHC IIa (MYH2) and MyHC IIx (MYH1) are expressed in type 2A and 2B fibers, respectively. Whereas recessive MyHC IIa myopathy has been described in many cases, myopathy caused by dominant MYH2 variants is rare and has been described with clinical manifestations and muscle pathology in only one family and two sporadic cases.<h4>Methods</h4>We investigated three patients from one family with a dominantly inherited myopathy by clinical investigation, whole-genome sequencing, muscle biopsy, and magnetic resonance imaging (MRI).<h4>Results</h4>Three siblings, one woman and two men now 54, 56 and 66 years o"],"journal":["BMC neurology"],"pagination":["428"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9664609"],"repository":["biostudies-literature"],"pubmed_title":["Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2."],"pmcid":["PMC9664609"],"pubmed_authors":["Hedberg-Oldfors C","Lindberg C","Geijer M","Eliasdottir O","Oldfors A"],"additional_accession":[]},"is_claimable":false,"name":"Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.","description":"<h4>Background</h4>Myosin heavy chain (MyHC) isoforms define the three major muscle fiber types in human extremity muscles. Slow beta/cardiac MyHC (MYH7) is expressed in type 1 muscle fibers. MyHC IIa (MYH2) and MyHC IIx (MYH1) are expressed in type 2A and 2B fibers, respectively. Whereas recessive MyHC IIa myopathy has been described in many cases, myopathy caused by dominant MYH2 variants is rare and has been described with clinical manifestations and muscle pathology in only one family and two sporadic cases.<h4>Methods</h4>We investigated three patients from one family with a dominantly inherited myopathy by clinical investigation, whole-genome sequencing, muscle biopsy, and magnetic resonance imaging (MRI).<h4>Results</h4>Three siblings, one woman and two men now 54, 56 and 66 years o","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Nov","modification":"2026-05-28T00:33:11.558Z","creation":"2025-04-06T01:51:38.792Z"},"accession":"S-EPMC9664609","cross_references":{"pubmed":["36380287"],"doi":["10.1186/s12883-022-02935-4"]}}