Congenital nemaline myopathy: genetics

Evidence-based neurology checklist on congenital nemaline myopathy: genetics: Genetic mutations NEM1 NEM2 ACTA1 ADSSL1 CFL2 FLNC NEB NEM6 RYR1 RYR3 TNNT1 TPM2 TPM3 KLHL40 KHLH41 LMOD3 KBTBD13

Genetic mutations

  • NEM1
  • NEM2
  • ACTA1
  • ADSSL1
  • CFL2
  • FLNC
  • NEB
  • NEM6
  • RYR1
  • RYR3
  • TNNT1
  • TPM2
  • TPM3
  • KLHL40
  • KHLH41
  • LMOD3
  • KBTBD13

References

  1. North KN, Laing NG, Wallgren-Pettersson C. Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy. J Med Genet 1997; 34:705-713.
  2. Sanoudou D, Beggs AH. Clinical and genetic heterogeneity in nemaline myopathy - a disease of skeletal muscle thin filaments. Trends Mol Med 2001; 7:362-368.
  3. Olivé M, Goldfarb LG, Lee HS, et al. Nemaline myopathy type 6: clinical and myopathological features. Muscle Nerve 2010; 42:901-907. 
  4. Saito Y, Nishikawa A, Iida A, et al ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features. Neurology 2020; 95:e1500-e1511.
  5. Shammas I, Alhammad R, Naddaf E. Filamin C-associated nemaline myopathy. Neurology 2024; 102:e209477.
  6. And 4 more. Subscribe to see the full list

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