Our aims are to identify the genetic causes of the nemaline myopathies (NM) and related disorders, elucidate the pathogenetic mechanisms, develop diagnostic methods, and work towards therapeutic trials. One focus is on the nebulin gene. We have established mutational and clinical databases on NM.
Our newest publication is out! Click here to read about the first dominantly inherited mutation in the nebulin gene. Please contact us if you are interested in the full paper but do not have access to it.
The Nemaline Myopathy Research Group wishes everyone a Happy New Year!
Are you looking for more information on nemaline myopathy? Are you a clinician, patient or a relative of someone affected? For more resources, please visit Nemaline.org.