Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

American Journal of Human Genetics

Volumn 71, Issue 3, 2002, Pages 492-500

  Hackman, Peter ^a   Vihola, Anna ^c   Haravuori, Henna ^b   Marchand, Sylvie ^d   Sarparanta, Jaakko ^a   De Seze, Jerome ^e   Labeit, Siegfried ^f   Witt, Christian ^f   Peltonen, Leena ^b,g   Richard, Isabelle ^d   Udd, Bjarne ^c  

^a UNIVERSITY OF HELSINKI   (Finland)

^b NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^c VAASA CENTRAL HOSPITAL   (Finland)

^d Gçnçthon   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f UNIVERSITY OF HEIDELBERG   (Germany)

^g UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONNECTIN; MUSCLE PROTEIN;

ANTERIOR TIBIAL SYNDROME; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARBOXY TERMINAL SEQUENCE; DELETION MUTANT; GENE MUTATION; GENETIC CODE; HAPLOTYPE; HISTOCHEMISTRY; HUMAN; HUMAN CELL; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; SARCOMERE; SKELETAL MUSCLE; TIBIALIS ANTERIOR MUSCLE;

INSERTION SEQUENCES;

EID: 0036723943     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/342380     Document Type: Article

References (39)

1. Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
2. Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A
3. The complete gene sequence of titin, expression of an unusual 700-kDa titin isoform and its interaction with obscurin identify a novel Z-line to I-band linking system
4. Identification of ubiquitin ligases required for skeletal muscle atrophy
5. Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain
6. Heterozygote and mutation detection by direct automated fluorescent DNA sequencing using a mutant Taq DNA polymerase
7. The first European family with tibial muscular dystrophy outside the Finnish population
8. Mutations in the β-tropomyosin (TPM2) gene-A rare cause of nemaline myopathy
9. Chromosome 15-linked limb-girdle muscular dystrophy: Clinical phenotypes in Reunion Island and French metropolitan communities
10. Calpain3 expression during human cardiogenesis
11. A molecular map of the interactions between titin and myosin-binding protein C: Implications for sarcomeric assembly in familial hypertrophic cardiomyopathy
12. The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin
13. The central Z-disk region of titin is assembled from a novel repeat in variable copy numbers
14. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
15. The NH2 terminus of titin spans the Z-disc: Its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity
16. A new 185,000-dalton skeletal muscle protein detected by monoclonal antibodies
17. Assignment of the tibial muscular dystrophy locus to chromosome 2q31
18. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: Titin is the candidate gene
19. Immunoglobulin-like modules from titin I-band: Extensible components of muscle elasticity
20. Genomic organization of M line titin and its tissue-specific expression in two distinct isoforms
21. Towards a molecular understanding of titin
22. Titins: Giant proteins in charge of muscle ultrastructure and elasticity
23. Structural basis for activation of the titin kinase domain during myofibrillogenesis
24. Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin
25. Chromosomal localization of the mouse titin gene and its relation to "muscular dystrophy with myositis" and nebulin genes on chromosome 2
26. Molecular structure of the sarcomeric M-band: Mapping of titin and myosin binding domains in myomesin and the identification of a potential regulatory phosphorylation site in myomesin
27. Mutations in the proteolytic enzyme calpain cause limb-girdle muscular dystrophy type 2A
28. Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IκBα/nuclear factor κB pathway perturbation in mice
29. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy
30. A molecular genetic linkage map of mouse chromosome 2
31. Familial dilated cardiomyopathy locus maps to chromosome 2q31
32. Tissue-specific expression and α-actinin binding properties of the Z-disc titin: Implications for the nature of vertebrate Z-discs
33. Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence
34. Titin and nebulin: Protein rulers in muscle?
35. Muscular dystrophy with separate clinical phenotypes in a large family
36. Tibial muscular dystrophy-Late adult-onset distal myopathy in 66 Finnish patients
37. Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy
38. Comparative sensitivity of alternative single strand conformation polymorphism (SSCP) methods
39. Molecular structure of the sarcomeric Z-disk: Two types of titin interactions lead to an asymmetrical sorting of α-actinin