A Cross-Sectional Study of Nemaline Myopathy.
Kimberly AmburgeyMeryl AckerSamia SaeedReshma AminAlan H BeggsCarsten G BonnemannMichael BrudnoAndrei ConstantinescuJahannaz DastgirMamadou DialloCasie A GenettiMichael GlueckStacy HewsonCourtney HumMinal S JainMichael W LawlorOscar H MeyerLeslie L NelsonNicole SultanumFaiza SyedTuyen TranChing H WangJames J DowlingPublished in: Neurology (2021)
We present a comprehensive cross-sectional study of NM. Our data identify significant disabilities and support a relatively stable disease course. We identify a need for further diagnostic investigation for the genetically unresolved group. MFM, PFTs, and the slurp test were identified as promising outcome measures for future clinical trials.