The 105th ENMC sponsored workshop: Pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002

Neuromuscular Disorders

Volumn 13, Issue 1, 2003, Pages 80-90

  Bushby, Kate M D ^a   Beckmann, J S ^b  

^a INSTITUTE OF HUMAN GENETICS   (United Kingdom)

^b WEIZMANN INSTITUTE OF SCIENCE   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CONNECTIN;

CONFERENCE PAPER; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; GENETIC HETEROGENEITY; LIMB GIRDLE MUSCULAR DYSTROPHY; NETHERLANDS; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

FEMALE; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; MALE; MUSCULAR DYSTROPHIES;

EID: 0037211475     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(02)00183-9     Document Type: Conference Paper

References (51)

1. Bushby K. Report on the 12th ENMC sponsored international workshop - the 'limb-girdle' muscular dystrophies. Neuromusc Disord. 2:1992;3-5.
2. Bushby K.M.D., Beckmann J.S. Report of the 30th and 31st ENMC international workshop - the limb-girdle muscular dystrophies, and proposal for a new nomenclature. Neuromusc Disord. 5:1995;337-344.
3. Beckmann J.S., Brown R.H., Muntoni F., Urtizberea A., Bonnemann C.G., Bushby K.M.D. 66th/67th ENMC sponsored international workshop: the limb-girdle muscular dystrophies, 26-28th March 1999, Naarden, the Netherlands. Neuromusc Disord. 9:1999;436-445.
4. Speer M.C., Yamaoka L.H., Gilchrist J.M., et al. Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form of chromosome 5q. Am J Hum Genet. 50:1992;1211-1217.
5. Hauser M.A., Horrigan S.K., Salmikangas P., et al. Myotilin is mutated in limb-girdle muscular dystrophy 1A. Hum Mol Genet. 9:(14):2000;2141-2147.
6. Muchir A., Bonne G., van der Kooi A.J., et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet. 9:(9):2000;1453-1459.
7. Minetti C., Sotgia F., Bruno C., et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet. 18:1998;365-368.
8. McNally E.M., de Sa Moreira E., Duggan D.J., et al. Caveolin-3 in muscular dystrophy. Hum Mol Genet. 7:(5):1998;871-877.
9. Messina D.L., Speer M.C., Pericak-Vance M.A., McNally E.M. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet. 61:1997;909-917.
10. Speer M.C., Vance J.M., Grubber J.M., et al. Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. Am J Hum Genet. 64:1999;556-562.
11. Beckmann J.S., Richard I., Hillaire D., et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. C R Acad Sci Paris. 312:1991;141-148.
12. Young K., Foroud T., Williams P., et al. Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15. Genomics. 13:1992;1370-1371.
13. Richard I., Broux O., Allamand V., et al. Mutations in the proteolytic enzyme, calpain 3, cause limb girdle muscular dystrophy type 2A. Cell. 81:1995;27-40.
14. Richard I., Brenguier L., Dincer P., et al. Mutliple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. Am J Hum Genet. 60:1997;1128-1138.
15. Bashir R., Strachan T., Keers S., et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet. 3:1994;455-457.
16. Bashir R., Britton S., Strachan T., et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet. 20:(1):1998;37-42.
17. Liu J., Aoki M., Illa I., et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet. 21:(1):1998;31-36.
18. Ben Othmane K., Ben Hamida M., Pericak-Vance M.A., et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet. 2:1992;315-317.
19. Azibi K., Bachner L., Beckmann J.S., et al. Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q. Hum Mol Genet. 2:1993;1423-1428.
20. Noguchi S., McNally E.M., Ben Othmane K., et al. Mutations in the dystrophin-associated protein y-sarcoglycan in chromosome 13 muscular dystrophy. Science. 270:1995;819-822.
21. McNally E.M., Duggan D.J., Gorospe J.R., et al. Mutations that disrupt the carboxyl-terminus of y-sarcoglycan cause muscular dystrophy. Hum Mol Genet. 5:(11):1996;1841-1847.
22. Piccolo F., Jeanpierre M., Leturcq F., et al. A founder mutation in the y-sarcoglycan gene of gypsies possibly predating their migration out of India. Hum Mol Genet. 5:(12):1996;2019-2022.
23. Roberds S., Leturcq F., Allamand V., et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell. 78:1994;625-633.
24. Piccolo F., Roberds S.L., Jeanpierre M., et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet. 10:1995;243-245.
25. Passos Bueno M.R., Moreira E.S., Vainzof M., et al. A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. Hum Mol Genet. 4:(7):1995;1163-1167.
26. Ljunggren A., Duggan D.J., McNally E.M., et al. Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol. 38:(3):1995;367-372.
27. Carrie A., Piccolo F., Leturcq F., et al. Mutational diversity and hot spots in the a-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J Med Genet. 34:1997;470-475.
28. Lim L.E., Duclos F., Broux O., et al. B-sarcoglycan: characterisation and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet. 11:1995;257-265.
29. Bonnemann C.G., Modi R., Noguchi S., et al. B-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet. 11:1995;266-273.
30. Passos-Bueno M.R., Moreira E.S., Vainzof M., Marie S.K., Zatz M. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMDF) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet. 5[6]:1996;815-820.
31. Nigro V., Moreira E.S., Piluso G., et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the d-sarcoglycan gene. Nat Genet. 14:1996;195-198.
32. Moreira E.S., Vainzof M., Marie S.K., Sertie A.L., Zatz M., Passos-Bueno M.R. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am J Hum Genet. 61:1997;151-159.
33. Moreira E.S., Wiltshire T.J., Faulkner G., et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet. 24:2000;163-166.
34. Weiler T., Greenberg C.R., Zelinski T., et al. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-33: evidence for another limb-girdle muscular dystrophy locus. Am J Hum Genet. 63:1998;140-147.
35. Frosk P., Weiler T., Nylen E., et al. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet. 70:2002;663-672.
36. Driss A., Amouri R., Ben Hamida C., et al. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3. Neuromusc Disorders. 10:2000;240-246.
37. Brockington M., Yuva Y., Prandini P., et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet. 10:(25):2001;2851-2859.
38. Haravuori H., Vihola A., Straub V., et al. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology. 56:(7):2001;869-877.
39. Sorimachi H., Kinbara K., Kimura S., et al. Muscle-specific calpain, p94, responsible for limb-girdle muscular dystrophy type 2A, associated with connectin through Is2, a p94-specific sequence. J Biol Chem. 270:1995;31158-31162.
40. Kinbara K., Sorimachi H., Ishiura S., et al. Muscle-specific calpain, p94, interacts with the extreme C-terminal region of connectin, a unique region flanked by two immunoglobulin C2 motifs. Arch Biochem Biophys. 342:1997;99-107.
41. Sorimachi H., Ishiura S., Suzuki K. Structure and physiological function of calpains. Biochem J. 328:1997;721-732.
42. Sorimachi H., Suzuki K. The structure of calpain. J Biochem. 129:2001;653-664.
43. Sorimachi H., Toyama-Sorimachi N., Saido T.C., et al. Muscle-specific calpain, p94, is degraded by autolysis immediately after translation, resulting in disappearance from muscle. J Biol Chem. 268:1993;10593-10605.
44. Gregorio C.C., Trombit cs K., Centner T., et al. The N terminus of titin spans the Z-disc; its interaction with a novel 19 kDa ligand (T-cap) is required for sarcomeric integrity. J Cell Biol. 143:1998;1013-1027.
45. Sorimachi H., Freiburg A., Kolmerer B., et al. Tissue specific expression and A-actinin binding properties of the Z-disc titin: implications for the nature of vertebrate Z-discs. J Mol Biol. 270:1997;688-695.
46. Centner T., Yano J., Mimura E., et al. Identification of muscle specific RING finger proteins as potential regulators of the titin kinase domain. J Mol Biol. 306:2001;717-726.
47. Mayans O., van der Ven P.F., Wilm M., et al. Structural basis for activation of the titin kinase domain during myofibrillogenesis. Nature. 395:1998;863-869.
48. Faulkner G., Lanfranchi G., Valle G. Telethonin and other new proteins of the Z-disc of skeletal muscle. IUBMB Life. 51:2001;C275-C282.
49. Furukawa T., Ono Y., Tsuchiya H., et al. Specific interaction of the potassium channel b-subunit mink with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system. J Mol Biol. 313:2001;775-784.
50. McElhinny A.S., Kakinuma K., Sorimachi H., et al. Muscle-specific RING finger 1 interacts with titin to regulate sarcomeric M-line and thick filament structure and may have nuclear functions via its interaction with glucocorticoid modulatory element binding protein 1. J Cell Biol. 157:2002;125-136.
51. Schmidt D., Muller S. Members of the PIAS family act as SUMO ligases for c-Jun and p53 and repress p53 activity. Proc Natl Acad Sci USA. 99:2002;2872-2877.