Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
Desmin myopathy was identified in a Chinese man with complete heart block and mild proximal and distal limb weakness. A novel heterozygous missense S13F mutation of the desmin gene was found to be associated with the myopathy. Family members carrying the mutation showed a similar or milder phenotype. The mutation is located at a protein kinase-C phosphorylation site within a highly conserved nonapeptide sequence in the head domain of the desmin protein. Expression of the mutant desmin cDNA in cell lines induced large desmin accumulations associated with preservation of a filamentous network.
Neuromuscular Research Laboratory, National Neuroscience Institute, 11 Jalan Tan Tock Seng, Singapore 308433, Singapore.
Emmanuel C
EC
Pica
Paramasivam
P
Kathirvel
Zacharias A D
ZA
Pramono
Poh-San
PS
Lai
Woon-Chee
WC
Yee
D000328:Adult; D000818:Animals; D044466:Asian People / Q000235:genetics; D001706:Biopsy; D001943:Breast Neoplasms; D045744:Cell Line, Tumor; D006224:Cricetinae; D003893:Desmin / Q000235:genetics* / Q000378:metabolism*; D005192:Family Health; D005260:Female; D006327:Heart Block / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000166:cytology; D008297:Male; D018908:Muscle Weakness / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D010766:Phosphorylation; D011493:Protein Kinase C / Q000378:metabolism; D014162:Transfection
D003893:Desmin; D011493:Protein Kinase C