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nemaline myopathies

Saturday 19 July 2003

Synopsis

- nemaline myopathy
- nemaline cardiomyopathy

Associations

- radiotherapy (14506646)

Etiology

- NEM1: autosomal dominant nemaline myopathy (NEM1) (MIM.161800) - mutations in the tropomyosin-3 gene (TPM3) (MIM.191030)

- NEM2: nemaline myopathy-2 (NEM2) is caused by mutation in the nebulin gene (NEB) (MIM.161650).

- NEM3: autosomal recessive nemaline myopathy (NEM3) (MIM.161800)- mutations in the ACTA1 gene (MIM.102610)

- NEM4 (MIM.609285): nemaline myopathy-4 is caused by mutation in the tropomyosin-2 gene (TPM2) (MIM.190990).

- NEM5: myopathy-5 (NEM5), also known as Amish nemaline myopathy (MIM.605355) , is caused by mutation in the gene encoding troponin T1 (TNNT1) (MIM.191041)

- NEM6 (MIM.609273)

- NEM7: nemaline myopathy with minicores type 7 with some unusual histopathologic and clinical features (NEM7) (MIM.610687): mutations in the CFL2 gene (cofilin-2) at14q12 (MIM.601443)

References

- Agrawal, P. B.; Greenleaf, R. S.; Tomczak, K. K.; Lehtokari, V.-L.; Wallgren-Pettersson, C.; Wallefeld, W.; Laing, N. G.; Darras, B. T.; Maciver, S. K.; Dormitzer, P. R.; Beggs, A. H. : Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am. J. Hum. Genet. 80: 162-167, 2007. PMID : 17160903

Reviews

- 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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