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.
Read more...
Our newest publication has gone online in February 2024!
Click here to read about how linked-read sequencing of large neuromuscular genes might increase diagnostic yield.
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.
Folkhälsan Research Center
Biomedicum Helsinki
Haartmaninkatu 8, PB63
FI-00290 Helsinki
Finland
© Nemaline Myopathy Group 2018-2022