Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
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| Title: | Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation. |
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| Authors: | Ranta-Aho J; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Felice KJ; Department of Neuromuscular Medicine, Hospital for Special Care, 2150 Corbin Avenue, New Britain, Connecticut, 06053, USA., Jonson PH; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Sarparanta J; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Yvorel C; Cardiology Department, Hôpital Nord, Hôpital Nord, CHU de Saint Etienne, Avenue Albert Raimond, Saint Priest-en-Jarez, 42270, France., Harzallah I; Genetic Department, Hôpital Nord, CHU de Saint Etienne, Avenue Albert Raimond, Saint Priest-en-Jarez, 42270, France., Touraine R; Genetic Department, Hôpital Nord, CHU de Saint Etienne, Avenue Albert Raimond, Saint Priest-en-Jarez, 42270, France., Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, 2 Brookline Place, Boston, Massachusetts, 02445, USA., Austin-Tse CA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, Massachusetts, 02114, USA., Ganesh VS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA.; Department of Neurology, Brigham and Women's Hospital, 60 Fenwood Road, Boston, Massachusetts, 02115, USA., O'Leary MC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA., Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, Massachusetts, 02114, USA., Hehir MK; Department of Neurology, Larner College of Medicine at the University of Vermont, 149 Beaumont Avenue, Burlington, Vermont, 05405, USA., Subramony S; Department of Neurology, University of Florida College of Medicine, 1505 SW Archer Road, Gainesville, Florida, 32610, USA., Wu Q; Department of Pathology, University of Connecticut School of Medicine, 263 Farmington Avenue, Farmington, Connecticut, 06030, USA., Udd B; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Tampere Neuromuscular Center, Tampere University and Tampere University Hospital, Biokatu 8, Tampere, 33520, Finland., Savarese M; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland. |
| Source: | Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Sep; Vol. 11 (9), pp. 2392-2405. Date of Electronic Publication: 2024 Aug 02. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2328-9503 |
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| DOI: | 10.1002/acn3.52154 |
