Clasification
autosomal dominant nemaline myopathy (NEM1) (MIM.161800) - mutations in the tropomyosin-3 gene (TPM3) (MIM.191030)
autosomal recessive nemaline myopathy (NEM2) (MIM.256030)- mutations in the ACTA1 gene (MIM.102610)
amish nemaline myopathy (MIM.605355) - mutationz in the TNNT1 gene (MIM.191041)
Associations
radiotherapy (#14506646#)
References
Sanoudou D, Beggs AH. Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments. Trends Mol Med. 2001 Aug;7(8):362-8. PMID: #11516997#