Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
Conrad C. Weihl, Ana Töpf, Rocío Bengoechea, Jennifer Duff, Richard Charlton, S. Kapetanovic García, Cristina Domínguez‐González, Abdulaziz Alsaman, Aurelio Hernández‐Laín, Luis Varona Franco, Monica Elizabeth Ponce Sanchez, Sarah J. Beecroft, Hayley Goullée, Jil Daw, Ankan K. Bhadra, Heather L. True, Michio Inoue, Andrew R. Findlay, Nigel G. Laing, Montse Olivé, Gianina Ravenscroft, Volker Straub
Topics & Concepts
Muscle biopsyMyopathyMissense mutationBiologyAtrophyMyofibrilLoss functionPathologyMyogenesisDesminCell biologyGeneticsSkeletal muscleMedicineEndocrinologyMutationPhenotypeBiopsyGeneVimentinImmunohistochemistryHeat shock proteins research