Limb girdle muscular dystrophy due to mutations in POMT2
Limb girdle muscular dystrophy due to mutations in POMT2
About this item
Full title
Author / Creator
Østergaard, Sofie Thurø , Johnson, Katherine , Stojkovic, Tanya , Krag, Thomas , De Ridder, Willem , De Jonghe, Peter , Baets, Jonathan , Claeys, Kristl G , Fernández-Torrón, Roberto , Phillips, Lauren , Topf, Ana , Colomer, Jaume , Nafissi, Shahriar , Jamal-Omidi, Shirin , Bouchet-Seraphin, Celine , Leturcq, France , MacArthur, Daniel G , Lek, Monkol , Xu, Liwen , Nelson, Isabelle , Straub, Volker and Vissing, John
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group LTD
Subjects
More information
Scope and Contents
Contents
BackgroundMutations in the gene coding for protein O-mannosyl-transferase 2 (POMT2) are known to cause severe congenital muscular dystrophy, and recently, mutations in POMT2 have also been linked to a milder limb-girdle muscular dystrophy (LGMD) phenotype, named LGMD type 2N (LGMD2N). Only four cases have been reported so far.ClinicalTrials.gov ID:...
Alternative Titles
Full title
Limb girdle muscular dystrophy due to mutations in POMT2
Authors, Artists and Contributors
Author / Creator
Johnson, Katherine
Stojkovic, Tanya
Krag, Thomas
De Ridder, Willem
De Jonghe, Peter
Baets, Jonathan
Claeys, Kristl G
Fernández-Torrón, Roberto
Phillips, Lauren
Topf, Ana
Colomer, Jaume
Nafissi, Shahriar
Jamal-Omidi, Shirin
Bouchet-Seraphin, Celine
Leturcq, France
MacArthur, Daniel G
Lek, Monkol
Xu, Liwen
Nelson, Isabelle
Straub, Volker
Vissing, John
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_03864445v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03864445v1
Other Identifiers
ISSN
0022-3050
E-ISSN
1468-330X
DOI
10.1136/jnnp-2017-317018
