surplus protein myopathies
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#