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.
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Our newest publications has gone online in August 2023!
Click here to read about two novel splice-site variants in TPM3 in a patient with an unusual form of nemaline myopathy.
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
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