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 a compound heterozygous murine model for nemaline myopathy . Please contact us if you are interested in the full paper but do not have access to it.
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.