Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family

Neuromuscular Disorders

Volumn 18, Issue 2, 2008, Pages 178-182

  Pica, Emmanuel C ^a   Kathirvel, Paramasivam ^a   Pramono, Zacharias A D ^a   Lai, Poh San ^b   Yee, Woon Chee ^a  

^a NATIONAL NEUROSCIENCE INSTITUTE   (Singapore)

^b NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

Author keywords

Desmin mutation; Desmin myopathy; Phosphorylation site

Indexed keywords

COMPLEMENTARY DNA; DESMIN; NONAPEPTIDE; PROTEIN KINASE C;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHINESE; GENE EXPRESSION; GENE MUTATION; HEART BLOCK; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MYOPATHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION;

ADULT; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BIOPSY; BREAST NEOPLASMS; CELL LINE, TUMOR; CRICETINAE; DESMIN; FAMILY HEALTH; FEMALE; HEART BLOCK; HUMANS; KIDNEY; MALE; MUSCLE WEAKNESS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PHOSPHORYLATION; PROTEIN KINASE C; TRANSFECTION;

EID: 39649100186     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.09.011     Document Type: Article

References (12)

1. Selcen D., and Engel A.G. Myofibrillar myopathy caused by novel dominant negative αB-crystallin mutations. Ann Neurol 54 (2003) 804-810
2. Selcen D., and Engel A.G. Mutations in myotilin cause myofibrillar myopathy. Neurology 62 (2004) 1363-1371
3. Selcen D., and Engel A.G. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 57 (2005) 269-276
4. Li D., Tapscoft T., Gonzalez O., et al. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 100 (1999) 461-464
5. Goldfarb L.G., Vicart P., Goebel H.H., et al. Desmin myopathy. Brain 127 (2004) 723-734
6. Dalakas M.C., Park K.Y., Semino-Mora C., et al. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 342 (2000) 770-780
7. Dalakas M.C., Dagvadorj A., Goudeau B., et al. Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations. Neuromuscul Disord 13 (2003) 252-258
8. Heins S., and Aebi U. Making heads and tails of intermediate filament assembly, dynamics and networks. Curr Opin Cell Biol 6 (1994) 25-33
9. Bär H., Strelkov S.V., Sjöberg G., et al. The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation?. J Struct Biol 148 (2004) 137-152
10. Selcen D., Ohno K., and Engel A.G. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain 127 (2004) 439-451
11. Kitamura S., Ando S., Shibata M., et al. Protein kinase C phosphorylation of desmin at four serine residues within the non-alpha-helical head domain. J Biol Chem 264 (1989) 5674-5678
12. Huang X., Li J., Foster D., et al. Protein kinase C-mediated desmin phosphorylation is related to myofibril disarray in cardiomyopathic hamster heart. Exp Biol Med (Maywood) 227 (2002) 1039-1046