Etiology
Fortunato F,
Farnè M,
Ferlini A
Neuromuscul Disord
2021 Oct;31(10):1013-1020.
doi: 10.1016/j.nmd.2021.08.004.
PMID: 34736624
Verdonschot JAJ,
Vanhoutte EK,
Claes GRF,
Helderman-van den Enden ATJM,
Hoeijmakers JGJ,
Hellebrekers DMEI,
de Haan A,
Christiaans I,
Lekanne Deprez RH,
Boen HM,
van Craenenbroeck EM,
Loeys BL,
Hoedemaekers YM,
Marcelis C,
Kempers M,
Brusse E,
van Waning JI,
Baas AF,
Dooijes D,
Asselbergs FW,
Barge-Schaapveld DQCM,
Koopman P,
van den Wijngaard A,
Heymans SRB,
Krapels IPC,
Brunner HG
Hum Mutat
2020 Jun;41(6):1091-1111.
Epub 2020 Mar 20
doi: 10.1002/humu.24004.
PMID: 32112656Free PMC Article
Kamdar F,
Garry DJ
J Am Coll Cardiol
2016 May 31;67(21):2533-46.
doi: 10.1016/j.jacc.2016.02.081.
PMID: 27230049
Roberts AM,
Ware JS,
Herman DS,
Schafer S,
Baksi J,
Bick AG,
Buchan RJ,
Walsh R,
John S,
Wilkinson S,
Mazzarotto F,
Felkin LE,
Gong S,
MacArthur JA,
Cunningham F,
Flannick J,
Gabriel SB,
Altshuler DM,
Macdonald PS,
Heinig M,
Keogh AM,
Hayward CS,
Banner NR,
Pennell DJ,
O'Regan DP,
San TR,
de Marvao A,
Dawes TJ,
Gulati A,
Birks EJ,
Yacoub MH,
Radke M,
Gotthardt M,
Wilson JG,
O'Donnell CJ,
Prasad SK,
Barton PJ,
Fatkin D,
Hubner N,
Seidman JG,
Seidman CE,
Cook SA
Sci Transl Med
2015 Jan 14;7(270):270ra6.
doi: 10.1126/scitranslmed.3010134.
PMID: 25589632Free PMC Article
Emery AE
Lancet
2002 Feb 23;359(9307):687-95.
doi: 10.1016/S0140-6736(02)07815-7.
PMID: 11879882
Diagnosis
Saad FA,
Siciliano G,
Angelini C
Biomolecules
2023 Aug 28;13(9)
doi: 10.3390/biom13091319.
PMID: 37759719Free PMC Article
Oates EC,
Jones KJ,
Donkervoort S,
Charlton A,
Brammah S,
Smith JE 3rd,
Ware JS,
Yau KS,
Swanson LC,
Whiffin N,
Peduto AJ,
Bournazos A,
Waddell LB,
Farrar MA,
Sampaio HA,
Teoh HL,
Lamont PJ,
Mowat D,
Fitzsimons RB,
Corbett AJ,
Ryan MM,
O'Grady GL,
Sandaradura SA,
Ghaoui R,
Joshi H,
Marshall JL,
Nolan MA,
Kaur S,
Punetha J,
Töpf A,
Harris E,
Bakshi M,
Genetti CA,
Marttila M,
Werlauff U,
Streichenberger N,
Pestronk A,
Mazanti I,
Pinner JR,
Vuillerot C,
Grosmann C,
Camacho A,
Mohassel P,
Leach ME,
Foley AR,
Bharucha-Goebel D,
Collins J,
Connolly AM,
Gilbreath HR,
Iannaccone ST,
Castro D,
Cummings BB,
Webster RI,
Lazaro L,
Vissing J,
Coppens S,
Deconinck N,
Luk HM,
Thomas NH,
Foulds NC,
Illingworth MA,
Ellard S,
McLean CA,
Phadke R,
Ravenscroft G,
Witting N,
Hackman P,
Richard I,
Cooper ST,
Kamsteeg EJ,
Hoffman EP,
Bushby K,
Straub V,
Udd B,
Ferreiro A,
North KN,
Clarke NF,
Lek M,
Beggs AH,
Bönnemann CG,
MacArthur DG,
Granzier H,
Davis MR,
Laing NG
Ann Neurol
2018 Jun;83(6):1105-1124.
doi: 10.1002/ana.25241.
PMID: 29691892Free PMC Article
Roberts AM,
Ware JS,
Herman DS,
Schafer S,
Baksi J,
Bick AG,
Buchan RJ,
Walsh R,
John S,
Wilkinson S,
Mazzarotto F,
Felkin LE,
Gong S,
MacArthur JA,
Cunningham F,
Flannick J,
Gabriel SB,
Altshuler DM,
Macdonald PS,
Heinig M,
Keogh AM,
Hayward CS,
Banner NR,
Pennell DJ,
O'Regan DP,
San TR,
de Marvao A,
Dawes TJ,
Gulati A,
Birks EJ,
Yacoub MH,
Radke M,
Gotthardt M,
Wilson JG,
O'Donnell CJ,
Prasad SK,
Barton PJ,
Fatkin D,
Hubner N,
Seidman JG,
Seidman CE,
Cook SA
Sci Transl Med
2015 Jan 14;7(270):270ra6.
doi: 10.1126/scitranslmed.3010134.
PMID: 25589632Free PMC Article
Flanigan KM,
Dunn DM,
von Niederhausern A,
Soltanzadeh P,
Gappmaier E,
Howard MT,
Sampson JB,
Mendell JR,
Wall C,
King WM,
Pestronk A,
Florence JM,
Connolly AM,
Mathews KD,
Stephan CM,
Laubenthal KS,
Wong BL,
Morehart PJ,
Meyer A,
Finkel RS,
Bonnemann CG,
Medne L,
Day JW,
Dalton JC,
Margolis MK,
Hinton VJ;
United Dystrophinopathy Project Consortium,
Weiss RB
Hum Mutat
2009 Dec;30(12):1657-66.
doi: 10.1002/humu.21114.
PMID: 19937601Free PMC Article
Emery AE
Lancet
2002 Feb 23;359(9307):687-95.
doi: 10.1016/S0140-6736(02)07815-7.
PMID: 11879882
Therapy
Saad FA,
Siciliano G,
Angelini C
Biomolecules
2023 Aug 28;13(9)
doi: 10.3390/biom13091319.
PMID: 37759719Free PMC Article
Haddad CN,
Ali S,
Stephanou D,
Assakura MS,
Sahagian L,
Trogkanis E
Hellenic J Cardiol
2023 Nov-Dec;74:58-64.
Epub 2023 Jul 3
doi: 10.1016/j.hjc.2023.06.007.
PMID: 37406964
Kamdar F,
Garry DJ
J Am Coll Cardiol
2016 May 31;67(21):2533-46.
doi: 10.1016/j.jacc.2016.02.081.
PMID: 27230049
Finsterer J,
Stöllberger C,
Wahbi K
Cardiovasc Pathol
2013 Sep-Oct;22(5):389-400.
Epub 2013 Feb 22
doi: 10.1016/j.carpath.2012.12.008.
PMID: 23433859
Kaspar RW,
Allen HD,
Montanaro F
J Am Acad Nurse Pract
2009 May;21(5):241-9.
doi: 10.1111/j.1745-7599.2009.00404.x.
PMID: 19432907Free PMC Article
Prognosis
Maurer C,
Boleti O,
Najarzadeh Torbati P,
Norouzi F,
Fowler ANR,
Minaee S,
Salih KH,
Taherpour M,
Birjandi H,
Alizadeh B,
Salih AF,
Bijari M,
Houlden H,
Pittman AM,
Maroofian R,
Almashham YH,
Karimiani EG,
Kaski JP,
Faqeih EA,
Vakilian F,
Jamshidi Y
Genes (Basel)
2023 Jan 10;14(1)
doi: 10.3390/genes14010182.
PMID: 36672924Free PMC Article
Verdonschot JAJ,
Vanhoutte EK,
Claes GRF,
Helderman-van den Enden ATJM,
Hoeijmakers JGJ,
Hellebrekers DMEI,
de Haan A,
Christiaans I,
Lekanne Deprez RH,
Boen HM,
van Craenenbroeck EM,
Loeys BL,
Hoedemaekers YM,
Marcelis C,
Kempers M,
Brusse E,
van Waning JI,
Baas AF,
Dooijes D,
Asselbergs FW,
Barge-Schaapveld DQCM,
Koopman P,
van den Wijngaard A,
Heymans SRB,
Krapels IPC,
Brunner HG
Hum Mutat
2020 Jun;41(6):1091-1111.
Epub 2020 Mar 20
doi: 10.1002/humu.24004.
PMID: 32112656Free PMC Article
Oates EC,
Jones KJ,
Donkervoort S,
Charlton A,
Brammah S,
Smith JE 3rd,
Ware JS,
Yau KS,
Swanson LC,
Whiffin N,
Peduto AJ,
Bournazos A,
Waddell LB,
Farrar MA,
Sampaio HA,
Teoh HL,
Lamont PJ,
Mowat D,
Fitzsimons RB,
Corbett AJ,
Ryan MM,
O'Grady GL,
Sandaradura SA,
Ghaoui R,
Joshi H,
Marshall JL,
Nolan MA,
Kaur S,
Punetha J,
Töpf A,
Harris E,
Bakshi M,
Genetti CA,
Marttila M,
Werlauff U,
Streichenberger N,
Pestronk A,
Mazanti I,
Pinner JR,
Vuillerot C,
Grosmann C,
Camacho A,
Mohassel P,
Leach ME,
Foley AR,
Bharucha-Goebel D,
Collins J,
Connolly AM,
Gilbreath HR,
Iannaccone ST,
Castro D,
Cummings BB,
Webster RI,
Lazaro L,
Vissing J,
Coppens S,
Deconinck N,
Luk HM,
Thomas NH,
Foulds NC,
Illingworth MA,
Ellard S,
McLean CA,
Phadke R,
Ravenscroft G,
Witting N,
Hackman P,
Richard I,
Cooper ST,
Kamsteeg EJ,
Hoffman EP,
Bushby K,
Straub V,
Udd B,
Ferreiro A,
North KN,
Clarke NF,
Lek M,
Beggs AH,
Bönnemann CG,
MacArthur DG,
Granzier H,
Davis MR,
Laing NG
Ann Neurol
2018 Jun;83(6):1105-1124.
doi: 10.1002/ana.25241.
PMID: 29691892Free PMC Article
Flanigan KM,
Dunn DM,
von Niederhausern A,
Soltanzadeh P,
Gappmaier E,
Howard MT,
Sampson JB,
Mendell JR,
Wall C,
King WM,
Pestronk A,
Florence JM,
Connolly AM,
Mathews KD,
Stephan CM,
Laubenthal KS,
Wong BL,
Morehart PJ,
Meyer A,
Finkel RS,
Bonnemann CG,
Medne L,
Day JW,
Dalton JC,
Margolis MK,
Hinton VJ;
United Dystrophinopathy Project Consortium,
Weiss RB
Hum Mutat
2009 Dec;30(12):1657-66.
doi: 10.1002/humu.21114.
PMID: 19937601Free PMC Article
Emery AE
Lancet
2002 Feb 23;359(9307):687-95.
doi: 10.1016/S0140-6736(02)07815-7.
PMID: 11879882
Clinical prediction guides
Souidi M,
Resta J,
Dridi H,
Sleiman Y,
Reiken S,
Formoso K,
Colombani S,
Amédro P,
Meyer P,
Charrabi A,
Vincenti M,
Liu Y,
Soni RK,
Lezoualc'h F,
Stéphane Blot DVM,
Rivier F,
Cazorla O,
Parini A,
Marks AR,
Mialet-Perez J,
Lacampagne A,
Meli AC
J Cachexia Sarcopenia Muscle
2024 Apr;15(2):536-551.
Epub 2024 Jan 14
doi: 10.1002/jcsm.13411.
PMID: 38221511Free PMC Article
Maurer C,
Boleti O,
Najarzadeh Torbati P,
Norouzi F,
Fowler ANR,
Minaee S,
Salih KH,
Taherpour M,
Birjandi H,
Alizadeh B,
Salih AF,
Bijari M,
Houlden H,
Pittman AM,
Maroofian R,
Almashham YH,
Karimiani EG,
Kaski JP,
Faqeih EA,
Vakilian F,
Jamshidi Y
Genes (Basel)
2023 Jan 10;14(1)
doi: 10.3390/genes14010182.
PMID: 36672924Free PMC Article
Vissing CR,
Espersen K,
Mills HL,
Bartels ED,
Jurlander R,
Skriver SV,
Ghouse J,
Thune JJ,
Axelsson Raja A,
Christensen AH,
Bundgaard H
JACC Heart Fail
2022 Nov;10(11):792-803.
Epub 2022 Sep 7
doi: 10.1016/j.jchf.2022.07.009.
PMID: 36328645
Oates EC,
Jones KJ,
Donkervoort S,
Charlton A,
Brammah S,
Smith JE 3rd,
Ware JS,
Yau KS,
Swanson LC,
Whiffin N,
Peduto AJ,
Bournazos A,
Waddell LB,
Farrar MA,
Sampaio HA,
Teoh HL,
Lamont PJ,
Mowat D,
Fitzsimons RB,
Corbett AJ,
Ryan MM,
O'Grady GL,
Sandaradura SA,
Ghaoui R,
Joshi H,
Marshall JL,
Nolan MA,
Kaur S,
Punetha J,
Töpf A,
Harris E,
Bakshi M,
Genetti CA,
Marttila M,
Werlauff U,
Streichenberger N,
Pestronk A,
Mazanti I,
Pinner JR,
Vuillerot C,
Grosmann C,
Camacho A,
Mohassel P,
Leach ME,
Foley AR,
Bharucha-Goebel D,
Collins J,
Connolly AM,
Gilbreath HR,
Iannaccone ST,
Castro D,
Cummings BB,
Webster RI,
Lazaro L,
Vissing J,
Coppens S,
Deconinck N,
Luk HM,
Thomas NH,
Foulds NC,
Illingworth MA,
Ellard S,
McLean CA,
Phadke R,
Ravenscroft G,
Witting N,
Hackman P,
Richard I,
Cooper ST,
Kamsteeg EJ,
Hoffman EP,
Bushby K,
Straub V,
Udd B,
Ferreiro A,
North KN,
Clarke NF,
Lek M,
Beggs AH,
Bönnemann CG,
MacArthur DG,
Granzier H,
Davis MR,
Laing NG
Ann Neurol
2018 Jun;83(6):1105-1124.
doi: 10.1002/ana.25241.
PMID: 29691892Free PMC Article
Flanigan KM,
Dunn DM,
von Niederhausern A,
Soltanzadeh P,
Gappmaier E,
Howard MT,
Sampson JB,
Mendell JR,
Wall C,
King WM,
Pestronk A,
Florence JM,
Connolly AM,
Mathews KD,
Stephan CM,
Laubenthal KS,
Wong BL,
Morehart PJ,
Meyer A,
Finkel RS,
Bonnemann CG,
Medne L,
Day JW,
Dalton JC,
Margolis MK,
Hinton VJ;
United Dystrophinopathy Project Consortium,
Weiss RB
Hum Mutat
2009 Dec;30(12):1657-66.
doi: 10.1002/humu.21114.
PMID: 19937601Free PMC Article