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nemaline myopathies

nemaline myopathy

 

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#


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