Etiology
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
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2020 Mar;62(3):297-302.
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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.
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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.
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PMID: 29141652Free PMC Article
Diagnosis
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
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
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
Therapy
van Kleef ESB,
Langer D,
van Engelen BGM,
Ottenheijm CAC,
Voermans NC,
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J Neuromuscul Dis
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Vita G,
Vita GL,
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Neurol Sci
2019 Apr;40(4):671-681.
Epub 2019 Feb 25
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Elahi B,
Laughlin RS,
Litchy WJ,
Milone M,
Liewluck T
Muscle Nerve
2019 Apr;59(4):475-478.
Epub 2019 Jan 6
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PMID: 30536954
Jungbluth H,
Treves S,
Zorzato F,
Sarkozy A,
Ochala J,
Sewry C,
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Nat Rev Neurol
2018 Mar;14(3):151-167.
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Prognosis
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
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,
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Orphanet J Rare Dis
2008 Sep 25;3:26.
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PMID: 17631035Free PMC Article
Clinical prediction guides
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Prepoudis A,
Wendebourg MJ,
Kesenheimer E,
Kyburz D,
Daikeler T,
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Maurer B,
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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
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PMID: 33397769Free PMC Article
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Chen T,
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Shi Q
Neurol Sci
2015 May;36(5):735-41.
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Laforêt P,
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Neurology
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