Etiology
Claeys KG
Dev Med Child Neurol
2020 Mar;62(3):297-302.
Epub 2019 Oct 2
doi: 10.1111/dmcn.14365.
PMID: 31578728
Butterfield RJ
Continuum (Minneap Minn)
2019 Dec;25(6):1640-1661.
doi: 10.1212/CON.0000000000000792.
PMID: 31794464
Sewry CA,
Laitila JM,
Wallgren-Pettersson C
J Muscle Res Cell Motil
2019 Jun;40(2):111-126.
Epub 2019 Jun 21
doi: 10.1007/s10974-019-09519-9.
PMID: 31228046Free PMC Article
Jungbluth H,
Voermans NC
Curr Opin Neurol
2016 Oct;29(5):642-50.
doi: 10.1097/WCO.0000000000000372.
PMID: 27538056
Goebel HH
Semin Pediatr Neurol
1996 Jun;3(2):152-61.
doi: 10.1016/s1071-9091(96)80043-x.
PMID: 8795848
Diagnosis
Claeys KG
Dev Med Child Neurol
2020 Mar;62(3):297-302.
Epub 2019 Oct 2
doi: 10.1111/dmcn.14365.
PMID: 31578728
Butterfield RJ
Continuum (Minneap Minn)
2019 Dec;25(6):1640-1661.
doi: 10.1212/CON.0000000000000792.
PMID: 31794464
Sewry CA,
Laitila JM,
Wallgren-Pettersson C
J Muscle Res Cell Motil
2019 Jun;40(2):111-126.
Epub 2019 Jun 21
doi: 10.1007/s10974-019-09519-9.
PMID: 31228046Free PMC Article
Robinson R,
Carpenter D,
Shaw MA,
Halsall J,
Hopkins P
Hum Mutat
2006 Oct;27(10):977-89.
doi: 10.1002/humu.20356.
PMID: 16917943
Goebel HH
Semin Pediatr Neurol
1996 Jun;3(2):152-61.
doi: 10.1016/s1071-9091(96)80043-x.
PMID: 8795848
Therapy
Shieh PB,
Kuntz NL,
Dowling JJ,
Müller-Felber W,
Bönnemann CG,
Seferian AM,
Servais L,
Smith BK,
Muntoni F,
Blaschek A,
Foley AR,
Saade DN,
Neuhaus S,
Alfano LN,
Beggs AH,
Buj-Bello A,
Childers MK,
Duong T,
Graham RJ,
Jain M,
Coats J,
MacBean V,
James ES,
Lee J,
Mavilio F,
Miller W,
Varfaj F,
Murtagh M,
Han C,
Noursalehi M,
Lawlor MW,
Prasad S,
Rico S
Lancet Neurol
2023 Dec;22(12):1125-1139.
doi: 10.1016/S1474-4422(23)00313-7.
PMID: 37977713
Giraud Q,
Spiegelhalter C,
Messaddeq N,
Laporte J
Brain
2023 Oct 3;146(10):4158-4173.
doi: 10.1093/brain/awad251.
PMID: 37490306Free PMC Article
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: 37458044Free PMC Article
Jungbluth H,
Treves S,
Zorzato F,
Sarkozy A,
Ochala J,
Sewry C,
Phadke R,
Gautel M,
Muntoni F
Nat Rev Neurol
2018 Mar;14(3):151-167.
Epub 2018 Feb 2
doi: 10.1038/nrneurol.2017.191.
PMID: 29391587
Rosenberg H,
Davis M,
James D,
Pollock N,
Stowell K
Orphanet J Rare Dis
2007 Apr 24;2:21.
doi: 10.1186/1750-1172-2-21.
PMID: 17456235Free PMC Article
Prognosis
Sewry CA,
Laitila JM,
Wallgren-Pettersson C
J Muscle Res Cell Motil
2019 Jun;40(2):111-126.
Epub 2019 Jun 21
doi: 10.1007/s10974-019-09519-9.
PMID: 31228046Free 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
Jungbluth H,
Wallgren-Pettersson C,
Laporte J
Orphanet J Rare Dis
2008 Sep 25;3:26.
doi: 10.1186/1750-1172-3-26.
PMID: 18817572Free PMC Article
Jungbluth H
Orphanet J Rare Dis
2007 Jul 13;2:31.
doi: 10.1186/1750-1172-2-31.
PMID: 17631035Free PMC Article
Jungbluth H
Orphanet J Rare Dis
2007 May 15;2:25.
doi: 10.1186/1750-1172-2-25.
PMID: 17504518Free PMC Article
Clinical prediction guides
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
Ticci C,
Cassandrini D,
Rubegni A,
Riva B,
Vattemi G,
Matà S,
Ricci G,
Baldacci J,
Guglielmi V,
Di Muzio A,
Malandrini A,
Tonin P,
Siciliano G,
Federico A,
Genazzani AA,
Santorelli FM,
Merlini L
Muscle Nerve
2021 Nov;64(5):567-575.
Epub 2021 Aug 26
doi: 10.1002/mus.27391.
PMID: 34368974
Amburgey K,
Acker M,
Saeed S,
Amin R,
Beggs AH,
Bönnemann CG,
Brudno M,
Constantinescu A,
Dastgir J,
Diallo M,
Genetti CA,
Glueck M,
Hewson S,
Hum C,
Jain MS,
Lawlor MW,
Meyer OH,
Nelson L,
Sultanum N,
Syed F,
Tran T,
Wang CH,
Dowling JJ
Neurology
2021 Mar 9;96(10):e1425-e1436.
Epub 2021 Jan 4
doi: 10.1212/WNL.0000000000011458.
PMID: 33397769Free PMC Article
Lacruz RS,
Feske S
Ann N Y Acad Sci
2015 Nov;1356(1):45-79.
Epub 2015 Oct 15
doi: 10.1111/nyas.12938.
PMID: 26469693Free PMC Article
Chen T,
Pu C,
Wang Q,
Liu J,
Mao Y,
Shi Q
Neurol Sci
2015 May;36(5):735-41.
Epub 2014 Dec 12
doi: 10.1007/s10072-014-2028-6.
PMID: 25501959