Dominant collagen XII mutations cause a distal myopathy: Dominant Collagen XII-Related Myopathy

Payam Mohassel,Teerin Liewluck,Ying Hu,Daniel Ezzo,Tracy Ogata,D. Saade,S. Neuhaus,Véronique Bolduc,Yaqun Zou,Sandra Donkervoort,Livija Medne,Charlotte J. Sumner,P. James B. Dyck,Klaas J. Wierenga,Gihan Tennekoon,Richard S. Finkel,Jiani Chen,Thomas L. Winder,Nathan P Staff,A. Reghan Foley,Manuel Koch,Carsten G. Bönnemann

Dominant collagen XII mutations cause a distal myopathy: Dominant Collagen XII-Related Myopathy

2019

Objective To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1.

Keywords:

Myopathy
Pathology
Medicine
Exon
Molecular biology
Missense mutation
Allele
Immunostaining
Phenotype
Biology
Dermal fibroblast
Haploinsufficiency

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