229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

•A consensus was reached on an updated definition of LGMD, and current sub-types were evaluated by application of the updated definition.•Consensus was reached on the most useful LGMD classification system that also allowed space for further discoveries of new sub-types.•Potential ramifications of t...

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Vydáno v:Neuromuscular disorders : NMD Ročník 28; číslo 8; s. 702 - 710
Hlavní autoři: Straub, Volker, Murphy, Alexander, Udd, Bjarne, Corrado, Angelini, Aymé, Ségolène, Bönneman, Carsten, de Visser, Marianne, Hamosh, Ada, Jacobs, Laura, Khizanishvili, Nina, Kroneman, Madelon, Laflorêt, Pascal, Murphy, Alex, Nigro, Vincenzo, Rufibach, Laura, Sarkozy, Anna, Swanepoel, Shaun, Torrente, Ivan, Urtizberea, Andoni, Vissing, John, Walter, Maggie
Médium: Journal Article
Jazyk:angličtina
Vydáno: England Elsevier B.V 01.08.2018
ISSN:0960-8966, 1873-2364, 1873-2364
On-line přístup:Získat plný text
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Shrnutí:•A consensus was reached on an updated definition of LGMD, and current sub-types were evaluated by application of the updated definition.•Consensus was reached on the most useful LGMD classification system that also allowed space for further discoveries of new sub-types.•Potential ramifications of the new definition and classification of LGMD for patients were discussed and several action points around how to disseminate this proposal were identified.
Bibliografie:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Conference-1
content type line 23
ISSN:0960-8966
1873-2364
1873-2364
DOI:10.1016/j.nmd.2018.05.007