A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defect.
Authors: Punetha J, Kesari A, Hoffman EP, Gos M, Kamińska A, Kostera-Pruszczyk A, Hausmanowa-Petrusewicz I, Hu Y, Zou Y, Bönnemann CG, Jędrzejowska M
Published in: Muscle and Nerve
Publication type: article
Subject areas: Biochemistry, Genetics and Molecular Biology; Medicine; Neuroscience
SJR best quartile: Q1