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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

2020Neuromuscular Disorders27 citationsDOI

Topics & Concepts

MyopathyMuscle contractureMuscle weaknessWeaknessMedicinePhenotypeInternal medicinePathologyGeneticsEndocrinologyBiologyGeneAnatomyBiochemical and Molecular ResearchLysosomal Storage Disorders ResearchCytomegalovirus and herpesvirus research
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients | Litcius