Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

doi:10.1186/s13395-018-0170-1

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Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Skeletal muscle - 30 Jul 2018

Johnson Katherine, Bertoli Marta, Phillips Lauren, Töpf Ana, Van den Bergh Peter, Vissing John, Witting Nanna, Nafissi Shahriar, Jamal-Omidi Shirin, Łusakowska Anna, Kostera-Pruszczyk Anna, Potulska-Chromik Anna, Deconinck Nicolas, Wallgren-Pettersson Carina, Strang-Karlsson Sonja, Colomer Jaume, Claeys Kristl G, De Ridder Willem, Baets Jonathan, von der Hagen Maja, Fernández-Torrón Roberto, Zulaica Ijurco Miren, Espinal Valencia Juan Bautista, Hahn Andreas, Durmus Hacer, Willis Tracey, Xu Liwen, Valkanas Elise, Mullen Thomas E, Lek Monkol, MacArthur Daniel G, Straub Volker

Abstract excerpt

BACKGROUND: Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies, the encoded proteins of which typically modulate the binding of α-dystroglycan to extracellular matrix ligands by altering its glycosylation. This results in a disruption...

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Identifiers

PMID: 30060766
DOI: 10.1186/s13395-018-0170-1
PMCID: PMC6066920

Genes

FKRP
FKTN
GMPPB
POMK
POMT1
POMT2

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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