Clinical myopathy in patients with nephropathic cystinosis.
Reza SadjadiStacey SullivanNatalie GrantSusan E ThomasMaya DoyleColleen HammondRachel DuongCamille CorreWilliam DavidFlorian EichlerPublished in: Muscle & nerve (2019)
In addition to further characterization of underlying dysphagia and muscle weakness, we propose a new psychometrically devised, disease specific, functional outcome measures for distal myopathy in patients with nephropathic cystinosis.