Our mission is to identify the genes and mutations causing the different subtypes of NM and related disorders. We aim to elucidate the pathogenetic mechanisms leading from mutation to disorder, and to develop and establish diagnostic molecular biological methods for these disorders to help pave the way for future therapies. In addition, we want to increase the knowledge on the effects of nutrition on disease severity and functioning in daily life.
Our newest publication has gone online in March 2021!
Click here to read the case report on a patient with an asymmetric distal myopathy caused by a de novo mosaic nebulin deletion. 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.