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 publications has gone online in May 2022!
Click here to read about how ddPCR can be used in the screening of CNVs in the NEB TRI region, or here to read about how ddPCR was used with aCGH to show that TTN has recurrent CNVs in its segmental duplication region.
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.