Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients
Magdalena Mroczek, Hacer Durmuş, Sunita Bijarnia‐Mahay, Ana Töpf, Roula Ghaoui, Samantha J. Bryen, Jennifer Duff, Eleina England, Sandra T. Cooper, Daniel G. MacArthur, Volker Straub
Topics & Concepts
MyopathyMuscle contractureMuscle weaknessWeaknessMedicinePhenotypeInternal medicinePathologyGeneticsEndocrinologyBiologyGeneAnatomyBiochemical and Molecular ResearchLysosomal Storage Disorders ResearchCytomegalovirus and herpesvirus research