{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Donkervoort S"],"funding":["National Institute of Neurological Disorders and Stroke","Silicon Valley Community Foundation","NHGRI NIH HHS","Common Fund","NINDS NIH HHS","National Human Genome Research Institute"],"pagination":["629-640"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10963296"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["11(3)"],"pubmed_abstract":["<h4>Objective</h4>ACTN2, encoding alpha-actinin-2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic variants were reported as a rare cause of core myopathy of variable clinical onset, although the pathomechanism remains to be elucidated. The possibility of a recessively inherited ACTN2-myopathy has also been proposed in a single series.<h4>Methods</h4>We provide clinical, imaging, and histological characterization of a series of patients with a novel biallelic ACTN2 variant.<h4>Results</h4>We report seven patients from five families with a recurring biallelic variant in ACTN2: c.1516A>G (p.Arg506Gly), all manifesting with a consistent phenotype of"],"journal":["Annals of clinical and translational neurology"],"pubmed_title":["Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy."],"pmcid":["PMC10963296"],"funding_grant_id":["U01HG010218","U01 HG010218","R01 HG009141","U01 NS134356","UM1 HG008900","UM1HG008900","K22 NS104135"],"pubmed_authors":["Dasari S","Cole FS","Undiagnosed Diseases Network","Emrick LT","Bonnemann CG","Crunk A","Wener M","Novacic D","Malicdan MCV","Taylor H","Dyment DA","Worley K","Sutton S","Cunningham M","Butte MJ","Jobanputra V","Walker M","Stoler JM","Jean-Marie O","Bonner D","Gropman A","Hartley T","Loo SK","Seto E","Coakley TR","Pallais JC","Fieg EL","Papp JC","Bellen HJ","Acosta MT","Posey JE","Lanza IR","Mohassel P","Silverman EK","Miller D","Dayal JG","Jarvik GP","Vogel TP","Adams DR","Krakow D","Byers P","Martin MG","Shelkowitz E","Bale J","Fisher PG","Fogel BL","Maghiro A","McWalter K","Mahoney R","Renteria G","Sinsheimer JS","Lanpher BC","Izumi K","Scott DA","McCray AT","Phillips JA","Whitlock J","Petcharet L","Sweetser DA","Alvey J","Tran AA","Macnamara EF","Cobban LA","Raper A","Davis J","Tarakad A","Marth G","Cogan JD","Wang LK","Bivona S","Tabor HK","Sharma P","Wenger T","Pusey Swerdzewski BN","Mozaffar T","Bejerano G","Bonner DE","Jarvik J","Craigen WJ","Might M","Wangler MF","Cohen JS","Pak S","Zuchner S","Bayrak-Toydemir P","Hisama FM","Martin BA","Hayes N","Longo N","Ketkar S","Rosenfeld JA","Mao R","Liu P","Sullivan K","Mamounas LA","Amelia LMT","Wambach J","Alvarez RL","Lalani SR","Dorrani N","Parker NH","Blue E","Austin-Tse C","Orengo JP","Hurth K","Thorson W","Wheeler MT","Hing A","Horike-Pyne M","Martinez-Agosto JA","O'Donnell-Luria A","Bennett J","Kilich G","Bamshad M","Corona R","Zhang Z","Tekin M","Eng CM","D'Souza P","Hom J","Kravets E","Hanchard N","Nelson SF","Halley MC","Smith KS","Saporta MA","Sheppeard S","Sybert V","Delgado M","Introne W","Krasnewich DM","Bohnsack J","Urv TK","Tifft CJ","Wan J","Baldridge D","Lewis RA","Holm IA","Solomon B","Solnica-Krezel L","Clark GD","Foley AR","Rodan LH","Afzali B","Byrd WE","Kohane IS","Nieves-Rodriguez S","Beck A","Moretti P","Potocki L","Crouse AB","Glass I","Mikati M","Donkervoort S","Wegner D","Doss AL","Hutchison S","Rives L","Coggins M","Andrews A","Kiley D","Kohler JN","Shashi V","Behrens E","O'Leary M","Botto L","Ashley EA","Bacino CA","Chanprasert S","Eckstein DJ","Barbouth D","Briere LC","Quinlan A","Ruzhnikov M","Beggs AH","Marwaha S","Nakano-Okuno M","Huang Y","Hamid R","Fu J","Reuter CM","Dai H","Spillmann RC","Goddard PC","Sisco K","Vanderver A","Balasubramanyam A","Burrage LC","Morimoto M","Shin J","Brown G","Schoch K","Marom R","Ungar RA","Manolio TA","Toro C","Pace L","Lee BH","Cassini T","Chao HT","Huang A","Oglesbee D","Mammen AL","Brull A","Velinder M","McConkie-Rosell A","Stergachis A","Morava E","Maduro VV","Yamamoto S","Viskochil D","Carey J","Sampson JB","Bademci G","Falk M","High F","Bernstein JA","Acquaye N","Berry GT","Bican A","Burke EA","Kobren SN","LeBlanc K","Lam C","Rossignol F","Walley NM","Robertson AK","Hassey K","Ward PA","Earl D","McGee E","MacRae CA","Hubshman MW","Kaitryn E","Rosenthal E","Chinn I","Doherty D","Mirzaa G","Allworth A","Warman-Chardon J","Maas RL","Colley HA","Gahl WA","Loscalzo J","Mulvihill JJ","Schedl T","Jayadev S","Rao DA","Dipple K","Wolfe LA","Korrick S","Raskind W","Dell'Angelica EC","Pajusalu S","Godfrey RA","Tan QK","Westerfield M","Douine ED","Sabaii M","Wahl CE"],"additional_accession":[]},"is_claimable":false,"name":"Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.","description":"<h4>Objective</h4>ACTN2, encoding alpha-actinin-2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic variants were reported as a rare cause of core myopathy of variable clinical onset, although the pathomechanism remains to be elucidated. The possibility of a recessively inherited ACTN2-myopathy has also been proposed in a single series.<h4>Methods</h4>We provide clinical, imaging, and histological characterization of a series of patients with a novel biallelic ACTN2 variant.<h4>Results</h4>We report seven patients from five families with a recurring biallelic variant in ACTN2: c.1516A>G (p.Arg506Gly), all manifesting with a consistent phenotype of","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Mar","modification":"2026-07-15T14:52:53.242Z","creation":"2025-04-06T19:02:48.322Z"},"accession":"S-EPMC10963296","cross_references":{"pubmed":["38311799"],"doi":["10.1002/acn3.51983"]}}