| Pubmed | emedicine | OMIM | NORD | Web | Ggl Images | Yho Images | Videos |

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

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#


Make a note

Forum de l'article

Contact us at humpath2004@yahoo.ca if you want to be the curator of this page or this section.
Copyright www.humpath.com