Dominant collagen XII mutations cause a distal myopathy
Dominant collagen XII mutations cause a distal myopathy
About this item
Full title
Author / Creator
Mohassel, Payam , Liewluck, Teerin , Hu, Ying , Ezzo, Daniel , Ogata, Tracy , Saade, Dimah , Neuhaus, Sarah , Bolduc, Véronique , Zou, Yaqun , Donkervoort, Sandra , Medne, Livija , Sumner, Charlotte J. , Dyck, P. James B. , Wierenga, Klaas J. , Tennekoon, Gihan , Finkel, Richard S. , Chen, Jiani , Winder, Thomas L. , Staff, Nathan P. , Foley, A. Reghan , Koch, Manuel and Bönnemann, Carsten G.
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Objective
To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1.
Methods
Patients with dominant COL12A1‐related myopathies were characterized by history and clinical examination, muscle imaging, and genetic analysis. Pathogenicity of the variants was...
Alternative Titles
Full title
Dominant collagen XII mutations cause a distal myopathy
Authors, Artists and Contributors
Author / Creator
Liewluck, Teerin
Hu, Ying
Ezzo, Daniel
Ogata, Tracy
Saade, Dimah
Neuhaus, Sarah
Bolduc, Véronique
Zou, Yaqun
Donkervoort, Sandra
Medne, Livija
Sumner, Charlotte J.
Dyck, P. James B.
Wierenga, Klaas J.
Tennekoon, Gihan
Finkel, Richard S.
Chen, Jiani
Winder, Thomas L.
Staff, Nathan P.
Foley, A. Reghan
Koch, Manuel
Bönnemann, Carsten G.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_8783869b7a1b4355a5a49ddec2739631
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8783869b7a1b4355a5a49ddec2739631
Other Identifiers
ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.50882
