Etiology
Bouma S,
Cobben N,
Bouman K,
Gaytant M,
van de Biggelaar R,
van Doorn J,
Reumers SFI,
Voet NB,
Doorduin J,
Erasmus CE,
Kamsteeg EJ,
Jungbluth H,
Wijkstra P,
Voermans NC
Neuromuscul Disord
2023 Jul;33(7):580-588.
Epub 2023 Jun 11
doi: 10.1016/j.nmd.2023.06.003.
PMID: 37364426
du Fay de Lavallaz J,
Prepoudis A,
Wendebourg MJ,
Kesenheimer E,
Kyburz D,
Daikeler T,
Haaf P,
Wanschitz J,
Löscher WN,
Schreiner B,
Katan M,
Jung HH,
Maurer B,
Hammerer-Lercher A,
Mayr A,
Gualandro DM,
Acket A,
Puelacher C,
Boeddinghaus J,
Nestelberger T,
Lopez-Ayala P,
Glarner N,
Shrestha S,
Manka R,
Gawinecka J,
Piscuoglio S,
Gallon J,
Wiedemann S,
Sinnreich M,
Mueller C;
BASEL XII Investigators
Circulation
2022 Jun 14;145(24):1764-1779.
Epub 2022 Apr 7
doi: 10.1161/CIRCULATIONAHA.121.058489.
PMID: 35389756Free 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
Butterfield RJ
Continuum (Minneap Minn)
2019 Dec;25(6):1640-1661.
doi: 10.1212/CON.0000000000000792.
PMID: 31794464
Cassandrini D,
Trovato R,
Rubegni A,
Lenzi S,
Fiorillo C,
Baldacci J,
Minetti C,
Astrea G,
Bruno C,
Santorelli FM;
Italian Network on Congenital Myopathies
Ital J Pediatr
2017 Nov 15;43(1):101.
doi: 10.1186/s13052-017-0419-z.
PMID: 29141652Free PMC Article
Diagnosis
du Fay de Lavallaz J,
Prepoudis A,
Wendebourg MJ,
Kesenheimer E,
Kyburz D,
Daikeler T,
Haaf P,
Wanschitz J,
Löscher WN,
Schreiner B,
Katan M,
Jung HH,
Maurer B,
Hammerer-Lercher A,
Mayr A,
Gualandro DM,
Acket A,
Puelacher C,
Boeddinghaus J,
Nestelberger T,
Lopez-Ayala P,
Glarner N,
Shrestha S,
Manka R,
Gawinecka J,
Piscuoglio S,
Gallon J,
Wiedemann S,
Sinnreich M,
Mueller C;
BASEL XII Investigators
Circulation
2022 Jun 14;145(24):1764-1779.
Epub 2022 Apr 7
doi: 10.1161/CIRCULATIONAHA.121.058489.
PMID: 35389756Free PMC Article
Butterfield RJ
Continuum (Minneap Minn)
2019 Dec;25(6):1640-1661.
doi: 10.1212/CON.0000000000000792.
PMID: 31794464
Cassandrini D,
Trovato R,
Rubegni A,
Lenzi S,
Fiorillo C,
Baldacci J,
Minetti C,
Astrea G,
Bruno C,
Santorelli FM;
Italian Network on Congenital Myopathies
Ital J Pediatr
2017 Nov 15;43(1):101.
doi: 10.1186/s13052-017-0419-z.
PMID: 29141652Free PMC Article
Schnitzler LJ,
Schreckenbach T,
Nadaj-Pakleza A,
Stenzel W,
Rushing EJ,
Van Damme P,
Ferbert A,
Petri S,
Hartmann C,
Bornemann A,
Meisel A,
Petersen JA,
Tousseyn T,
Thal DR,
Reimann J,
De Jonghe P,
Martin JJ,
Van den Bergh PY,
Schulz JB,
Weis J,
Claeys KG
Orphanet J Rare Dis
2017 May 11;12(1):86.
doi: 10.1186/s13023-017-0640-2.
PMID: 28490364Free PMC Article
Wallgren-Pettersson C,
Sewry CA,
Nowak KJ,
Laing NG
Semin Pediatr Neurol
2011 Dec;18(4):230-8.
doi: 10.1016/j.spen.2011.10.004.
PMID: 22172418
Therapy
van Kleef ESB,
Langer D,
van Engelen BGM,
Ottenheijm CAC,
Voermans NC,
Doorduin J
J Neuromuscul Dis
2023;10(5):825-834.
doi: 10.3233/JND-221665.
PMID: 37458044
Zhao B,
Dai T,
Zhao D,
Ma X,
Zhao C,
Li L,
Sun Y,
Zhang Y,
Yan Y,
Lu JQ,
Liu F,
Yan C
Neurol Neuroimmunol Neuroinflamm
2022 Jul;9(4)
Epub 2022 May 17
doi: 10.1212/NXI.0000000000001184.
PMID: 35581006Free PMC Article
Reumers SFI,
Erasmus CE,
Bouman K,
Pennings M,
Schouten M,
Kusters B,
Duijkers FAM,
van der Kooi A,
Jaeger B,
Verschuuren-Bemelmans CC,
Faber CG,
van Engelen BG,
Kamsteeg EJ,
Jungbluth H,
Voermans NC
Clin Genet
2021 Dec;100(6):692-702.
Epub 2021 Sep 25
doi: 10.1111/cge.14054.
PMID: 34463354Free PMC Article
Naddaf E,
Milone M,
Kansagra A,
Buadi F,
Kourelis T
Neurology
2019 Jul 16;93(3):e298-e305.
Epub 2019 Jun 5
doi: 10.1212/WNL.0000000000007777.
PMID: 31167932
Voermans NC,
Benveniste O,
Minnema MC,
Lokhorst H,
Lammens M,
Meersseman W,
Delforge M,
Kuntzer T,
Novy J,
Pabst T,
Bouhour F,
Romero N,
Leblond V,
Bergh Pv,
Vekemans MC,
van Engelen BG,
Eymard B
Neurology
2014 Dec 2;83(23):2133-9.
Epub 2014 Nov 5
doi: 10.1212/WNL.0000000000001047.
PMID: 25378674
Prognosis
Bouma S,
Cobben N,
Bouman K,
Gaytant M,
van de Biggelaar R,
van Doorn J,
Reumers SFI,
Voet NB,
Doorduin J,
Erasmus CE,
Kamsteeg EJ,
Jungbluth H,
Wijkstra P,
Voermans NC
Neuromuscul Disord
2023 Jul;33(7):580-588.
Epub 2023 Jun 11
doi: 10.1016/j.nmd.2023.06.003.
PMID: 37364426
Reumers SFI,
Erasmus CE,
Bouman K,
Pennings M,
Schouten M,
Kusters B,
Duijkers FAM,
van der Kooi A,
Jaeger B,
Verschuuren-Bemelmans CC,
Faber CG,
van Engelen BG,
Kamsteeg EJ,
Jungbluth H,
Voermans NC
Clin Genet
2021 Dec;100(6):692-702.
Epub 2021 Sep 25
doi: 10.1111/cge.14054.
PMID: 34463354Free 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
Cassandrini D,
Trovato R,
Rubegni A,
Lenzi S,
Fiorillo C,
Baldacci J,
Minetti C,
Astrea G,
Bruno C,
Santorelli FM;
Italian Network on Congenital Myopathies
Ital J Pediatr
2017 Nov 15;43(1):101.
doi: 10.1186/s13052-017-0419-z.
PMID: 29141652Free PMC Article
Schreckenbach T,
Schröder JM,
Voit T,
Abicht A,
Neuen-Jacob E,
Roos A,
Bulst S,
Kuhl C,
Schulz JB,
Weis J,
Claeys KG
Neuromuscul Disord
2014 Feb;24(2):117-24.
Epub 2013 Oct 23
doi: 10.1016/j.nmd.2013.10.002.
PMID: 24239060
Clinical prediction guides
Bouma S,
Cobben N,
Bouman K,
Gaytant M,
van de Biggelaar R,
van Doorn J,
Reumers SFI,
Voet NB,
Doorduin J,
Erasmus CE,
Kamsteeg EJ,
Jungbluth H,
Wijkstra P,
Voermans NC
Neuromuscul Disord
2023 Jul;33(7):580-588.
Epub 2023 Jun 11
doi: 10.1016/j.nmd.2023.06.003.
PMID: 37364426
Kapur RP,
Goldstein AM,
Loeff DS,
Myers CT,
Paschal CR
Pediatr Dev Pathol
2022 Nov-Dec;25(6):581-597.
Epub 2022 Jun 12
doi: 10.1177/10935266221107449.
PMID: 35695198
du Fay de Lavallaz J,
Prepoudis A,
Wendebourg MJ,
Kesenheimer E,
Kyburz D,
Daikeler T,
Haaf P,
Wanschitz J,
Löscher WN,
Schreiner B,
Katan M,
Jung HH,
Maurer B,
Hammerer-Lercher A,
Mayr A,
Gualandro DM,
Acket A,
Puelacher C,
Boeddinghaus J,
Nestelberger T,
Lopez-Ayala P,
Glarner N,
Shrestha S,
Manka R,
Gawinecka J,
Piscuoglio S,
Gallon J,
Wiedemann S,
Sinnreich M,
Mueller C;
BASEL XII Investigators
Circulation
2022 Jun 14;145(24):1764-1779.
Epub 2022 Apr 7
doi: 10.1161/CIRCULATIONAHA.121.058489.
PMID: 35389756Free PMC Article
Nicolau S,
Kao JC,
Liewluck T
Muscle Nerve
2019 Dec;60(6):648-657.
Epub 2019 Sep 10
doi: 10.1002/mus.26676.
PMID: 31449669
Rudnik-Schöneborn S,
Wallgren-Pettersson C
Semin Pediatr Neurol
2019 Apr;29:23-29.
Epub 2019 Jan 16
doi: 10.1016/j.spen.2019.01.006.
PMID: 31060722