Ontology highlight
ABSTRACT:
SUBMITTER: Park KY
PROVIDER: S-EPMC1734475 | biostudies-other | 2000 Nov
REPOSITORIES: biostudies-other
Park K Y KY Dalakas M C MC Goebel H H HH Ferrans V J VJ Semino-Mora C C Litvak S S Takeda K K Goldfarb L G LG
Journal of medical genetics 20001101 11
Desmin myopathy is a hereditary or sporadic cardiac and skeletal myopathy characterised by intracytoplasmic accumulation of desmin reactive deposits in muscle cells. We have characterised novel splice site mutations in the gene desmin resulting in deletion of the entire exon 3 during the pre-mRNA splicing. Sequencing of cDNA and genomic DNA identified a heterozygous de novo A to G change at the +3 position of the splice donor site of intron 3 (IVS3+3A-->G) in a patient with sporadic skeletal and ...[more]