Desmin splice variants causing cardiac and skeletal myopathy

Journal of Medical Genetics

Volumn 37, Issue 11, 2000, Pages 851-857

  Park, K Y ^a   Dalakas, M C ^a   Goebel, H H ^b   Ferrans, V J ^c   Semino Mora, C ^a   Litvak, S ^a   Takeda, K ^c   Goldfarb, L G ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^c NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

Author keywords

Cardiac and skeletal myopathy; Desmin splice site mutations; Expression study; Genotype phenotype correlation

Indexed keywords

ADENINE; COMPLEMENTARY DNA; DESMIN; DNA; GUANINE; MESSENGER RNA;

AMINO ACID SEQUENCE; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CELL INCLUSION; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC CONSERVATION; GENETIC LINKAGE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INTRON; MUSCLE BIOPSY; MUSCLE CELL; MYOPATHY; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN CONFORMATION; RNA SPLICING; SEQUENCE ANALYSIS; SKELETAL MUSCLE; SPLICEOSOME;

EID: 0033746702     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.11.851     Document Type: Article

References (29)

1. Desmin-related neuromuscular disorders
2. Desmin-related myopathies
3. Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells
4. Myofibrillar myopathy with abnormal foci of desmin positivity. 1. Light and electron microscopy analysis of 10 cases
5. Myofibrillar myopathy with abnormal foci of desmin positivity. 2. Immunocytochemical analysis reveals accumulation of multiple other proteins
6. Intermediate filaments as mechanical integrators of cellular space
7. Proteinchemical characterization of three structurally distinct domains along the protofilament unit of desmin 10 nm filaments
8. Intermediate filaments: Structure, dynamics, function, and disease
9. The amino acid sequence of chicken muscle desmin provides a common structural model for intermediate filament proteins
10. Assignment of human desmin gene to band 2q35 by non-radioactive in situ hybridization
11. Human desmin-coding gene: Complete nucleotide sequence, characterization and regulation of expression during myogenesis and development
12. Desmin in muscle formation and maintenance: Knockouts and consequences
13. Cardiovascular lesions and skeletal myopathy in mice lacking desmin
14. Null mutation in the desmin gene gives rise to a cardiomyopathy
15. Assembly of carboxy-terminally deleted desmin in vimentin-free cells
16. Truncated desmin in PtK2 cells induces desmin-vimentin-cytokeratin coprecipitation, involution of intermediate filament networks, and nuclear fragmentation: A model for many degenerative diseases
17. Muscle-specific expression of a dominant negative desmin mutant in transgenic mice
18. Missense mutations in desmin associated with familial cardiac and skeletal myopathy
19. A dysfunctional desmin mutation in a patient with severe generalized myopathy
20. Desmin mutation responsible for idiopathic dilated cardiomyopathy
21. A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation
22. A simple method for calculating the probability of excluding paternity with any number of codominant alleles
23. EcoRV RFLP of the desmin (DES) gene and MspI RFLP of the villin (VIL1) gene on human chromosome 2
24. Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy
25. Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy
26. Construction of a novel database containing aberrant splicing mutations of mammalian genes
27. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
28. Splicing of messenger RNA precursors
29. Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A→G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): How does G at position +3 result aberrant splicing?