Title: 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
Journal: Muscle and Nerve
Publication type: article
DOI: 10.1002/mus.25232