Etiology
Dabaj I,
Carlier RY,
Gómez-Andrés D,
Neto OA,
Bertini E,
D'amico A,
Fattori F,
PéRéon Y,
Castiglioni C,
Rodillo E,
Catteruccia M,
Guimarães JB,
Oliveira ASB,
Reed UC,
Mesrob L,
Lechner D,
Boland A,
Deleuze JF,
Malfatti E,
Bonnemann C,
Laporte J,
Romero N,
Felter A,
Quijano-Roy S,
Moreno CAM,
Zanoteli E
Muscle Nerve
2018 Aug;58(2):224-234.
Epub 2018 May 14
doi: 10.1002/mus.26137.
PMID: 29624713
Fiorillo C,
Astrea G,
Savarese M,
Cassandrini D,
Brisca G,
Trucco F,
Pedemonte M,
Trovato R,
Ruggiero L,
Vercelli L,
D'Amico A,
Tasca G,
Pane M,
Fanin M,
Bello L,
Broda P,
Musumeci O,
Rodolico C,
Messina S,
Vita GL,
Sframeli M,
Gibertini S,
Morandi L,
Mora M,
Maggi L,
Petrucci A,
Massa R,
Grandis M,
Toscano A,
Pegoraro E,
Mercuri E,
Bertini E,
Mongini T,
Santoro L,
Nigro V,
Minetti C,
Santorelli FM,
Bruno C;
Italian Network on Congenital Myopathies
Orphanet J Rare Dis
2016 Jul 7;11(1):91.
doi: 10.1186/s13023-016-0476-1.
PMID: 27387980Free PMC Article
Diagnosis
Monda E,
Lioncino M,
Caiazza M,
Simonelli V,
Nesti C,
Rubino M,
Perna A,
Mauriello A,
Budillon A,
Pota V,
Bruno G,
Varone A,
Nigro V,
Santorelli FM,
Pacileo G,
Russo MG,
Frisso G,
Sampaolo S,
Limongelli G
Int J Mol Sci
2023 May 22;24(10)
doi: 10.3390/ijms24109108.
PMID: 37240454Free PMC Article
de Frutos F,
Ochoa JP,
Navarro-Peñalver M,
Baas A,
Bjerre JV,
Zorio E,
Méndez I,
Lorca R,
Verdonschot JAJ,
García-Granja PE,
Bilinska Z,
Fatkin D,
Fuentes-Cañamero ME,
García-Pinilla JM,
García-Álvarez MI,
Girolami F,
Barriales-Villa R,
Díez-López C,
Lopes LR,
Wahbi K,
García-Álvarez A,
Rodríguez-Sánchez I,
Rekondo-Olaetxea J,
Rodríguez-Palomares JF,
Gallego-Delgado M,
Meder B,
Kubanek M,
Hansen FG,
Restrepo-Córdoba MA,
Palomino-Doza J,
Ruiz-Guerrero L,
Sarquella-Brugada G,
Perez-Perez AJ,
Bermúdez-Jiménez FJ,
Ripoll-Vera T,
Rasmussen TB,
Jansen M,
Sabater-Molina M,
Elliot PM,
Garcia-Pavia P;
European Genetic Cardiomyopathies Initiative Investigators
J Am Coll Cardiol
2022 Oct 11;80(15):1447-1461.
Epub 2022 Aug 22
doi: 10.1016/j.jacc.2022.07.023.
PMID: 36007715
Höller V,
Seebacher H,
Zach D,
Schwegel N,
Ablasser K,
Kolesnik E,
Gollmer J,
Waltl G,
Rainer PP,
Verheyen S,
Zirlik A,
Verheyen N
Genes (Basel)
2021 Sep 23;12(10)
doi: 10.3390/genes12101469.
PMID: 34680864Free PMC Article
Atemin S,
Todorov T,
Maver A,
Chamova T,
Georgieva B,
Tincheva S,
Pacheva I,
Ivanov I,
Taneva A,
Zlatareva D,
Tournev I,
Guergueltcheva V,
Gospodinova M,
Chochkova L,
Peterlin B,
Mitev V,
Todorova A
Neuromuscul Disord
2021 Jul;31(7):633-641.
Epub 2021 Apr 26
doi: 10.1016/j.nmd.2021.04.004.
PMID: 34053846
Fiorillo C,
Astrea G,
Savarese M,
Cassandrini D,
Brisca G,
Trucco F,
Pedemonte M,
Trovato R,
Ruggiero L,
Vercelli L,
D'Amico A,
Tasca G,
Pane M,
Fanin M,
Bello L,
Broda P,
Musumeci O,
Rodolico C,
Messina S,
Vita GL,
Sframeli M,
Gibertini S,
Morandi L,
Mora M,
Maggi L,
Petrucci A,
Massa R,
Grandis M,
Toscano A,
Pegoraro E,
Mercuri E,
Bertini E,
Mongini T,
Santoro L,
Nigro V,
Minetti C,
Santorelli FM,
Bruno C;
Italian Network on Congenital Myopathies
Orphanet J Rare Dis
2016 Jul 7;11(1):91.
doi: 10.1186/s13023-016-0476-1.
PMID: 27387980Free PMC Article
Prognosis
Myasnikov RP,
Kulikova OV,
Meshkov AN,
Bukaeva AA,
Kiseleva AV,
Ershova AI,
Petukhova AV,
Divashuk MG,
Zotova ED,
Sotnikova EA,
Abisheva AA,
Muraveva AV,
Koretskiy SN,
Popov SV,
Utkina MV,
Snigir EA,
Mitrofanov SI,
Konureeva KD,
Mershina EA,
Sinitsyn VE,
Yudin SM,
Drapkina OM
Genes (Basel)
2022 Sep 28;13(10)
doi: 10.3390/genes13101750.
PMID: 36292635Free PMC Article
de Frutos F,
Ochoa JP,
Navarro-Peñalver M,
Baas A,
Bjerre JV,
Zorio E,
Méndez I,
Lorca R,
Verdonschot JAJ,
García-Granja PE,
Bilinska Z,
Fatkin D,
Fuentes-Cañamero ME,
García-Pinilla JM,
García-Álvarez MI,
Girolami F,
Barriales-Villa R,
Díez-López C,
Lopes LR,
Wahbi K,
García-Álvarez A,
Rodríguez-Sánchez I,
Rekondo-Olaetxea J,
Rodríguez-Palomares JF,
Gallego-Delgado M,
Meder B,
Kubanek M,
Hansen FG,
Restrepo-Córdoba MA,
Palomino-Doza J,
Ruiz-Guerrero L,
Sarquella-Brugada G,
Perez-Perez AJ,
Bermúdez-Jiménez FJ,
Ripoll-Vera T,
Rasmussen TB,
Jansen M,
Sabater-Molina M,
Elliot PM,
Garcia-Pavia P;
European Genetic Cardiomyopathies Initiative Investigators
J Am Coll Cardiol
2022 Oct 11;80(15):1447-1461.
Epub 2022 Aug 22
doi: 10.1016/j.jacc.2022.07.023.
PMID: 36007715
Höller V,
Seebacher H,
Zach D,
Schwegel N,
Ablasser K,
Kolesnik E,
Gollmer J,
Waltl G,
Rainer PP,
Verheyen S,
Zirlik A,
Verheyen N
Genes (Basel)
2021 Sep 23;12(10)
doi: 10.3390/genes12101469.
PMID: 34680864Free PMC Article
Clinical prediction guides
Myasnikov RP,
Kulikova OV,
Meshkov AN,
Bukaeva AA,
Kiseleva AV,
Ershova AI,
Petukhova AV,
Divashuk MG,
Zotova ED,
Sotnikova EA,
Abisheva AA,
Muraveva AV,
Koretskiy SN,
Popov SV,
Utkina MV,
Snigir EA,
Mitrofanov SI,
Konureeva KD,
Mershina EA,
Sinitsyn VE,
Yudin SM,
Drapkina OM
Genes (Basel)
2022 Sep 28;13(10)
doi: 10.3390/genes13101750.
PMID: 36292635Free PMC Article
Beecroft SJ,
van de Locht M,
de Winter JM,
Ottenheijm CA,
Sewry CA,
Mohammed S,
Ryan MM,
Woodcock IR,
Sanders L,
Gooding R,
Davis MR,
Oates EC,
Laing NG,
Ravenscroft G,
McLean CA,
Jungbluth H
Neuromuscul Disord
2019 Jun;29(6):456-467.
Epub 2019 Apr 12
doi: 10.1016/j.nmd.2019.04.002.
PMID: 31130376
Surikova Y,
Filatova A,
Polyak M,
Skoblov M,
Zaklyazminskaya E
Gene
2019 May 20;697:159-164.
Epub 2019 Feb 19
doi: 10.1016/j.gene.2019.02.011.
PMID: 30794915