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surplus protein myopathies

Friday 19 March 2004

Sporadic and familial neuromuscular conditions marked by a surplus of proteins present in a granular or filamentous form, such as desmin-related myopathies, actinopathy and, perhaps, hyaline body myopathy.

- desminopathies: mutations in the desmin and alpha-B crystallin genes
- actinopathy: mutations in the actin gene
- surplus sarcoplasmic and/or intranuclear nemaline bodies

  • mutation in tropomyosin-3
  • mutation in actin
  • mutation in nebulin

References

- Goebel HH, Warlo IA. Surplus protein myopathies. Neuromuscul Disord. 2001 Jan;11(1):3-6. PMID: 11166159

- Goebel HH, Warlo I. Gene-related protein surplus myopathies. Mol Genet Metab. 2000 Sep-Oct;71(1-2):267-75. PMID: 11001821