Limb-girdle muscular dystrophy: In childhood

Pediatric Annals

Volumn 34, Issue 7, 2005, Pages 569-577

  Bónnemann, Carsten G ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN; DYSFERLIN; FUKUTIN; SARCOGLYCAN;

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CLINICAL EXAMINATION; CLINICAL FEATURE; DISEASE CLASSIFICATION; DISEASE COURSE; DUCHENNE MUSCULAR DYSTROPHY; FAMILY HISTORY; HUMAN; LABORATORY TEST; LIMB GIRDLE MUSCULAR DYSTROPHY; REVIEW;

EID: 23044505486     PISSN: 00904481     EISSN: None     Source Type: Journal    
DOI: 10.3928/0090-4481-20050701-14     Document Type: Review

References (62)

1. van der Kooi AJ, de Visser M, Barth PG. Limb girdle muscular dystrophy: reappraisal of a rejected entity. Clin Neurol Neurosurg. 1994;96(3):209-218.
2. Bushby K, Anderson LV, Pollitt C, et al. Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. Brain. 1998;121(pt 4):581-588.
3. Messina DN, Speer MC, Pericak-Vance MA, McNally EM. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet. 1997;61(4):909-917.
4. Speer MC, Vance JM, Grubber JM, et al. Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. Am J Hum Genet. 1999;64(2):556-562.
5. Palenzuela L, Andreu AL, Gamez J, et al. A novel autosomal dominant limb-girdle muscular dystrophy (LGMD IF) maps to 7q32.1-32.2. Neurology. 2003;61(3):404-406.
6. Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M. A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet. 2004;12(12):1033-1040.
7. Erratum in: Eur J Hum Genet. 2005;13(2):264.
8. van der Kooi AJ, Earth PG, Busch HFM, et al. The clinical spectrum of limb girdle muscular dystrophy: A survey in the Netherlands. Brain. 1996; 119(pt 5): 1471-1480.
9. Bönnemann CG, Finkel RS. Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies. Semin Pediatr Neurol. 2002;9(2):81-99.
10. Lapidos KA, Kakkar R, McNally EM. The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma. Circ Res. 2004;94(8):1023-1031.
11. Passos-Bueno MR, Vainzof M, Moreira ES, Zatz M. Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. Am J Med Genet. 1999;82(5):392-398.
12. Richard I, Broux O, Allamand V, et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell. 1995;81(1):27-40.
13. Bönnemann CG, Modi R, Noguchi S, et al. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet. 1995;11(3):266-273.
14. Lim LE, Duclos F, Broux O, et al. β-sarcoglycan (43 DAG): Characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet. 1995;11(3):257-265.
15. Noguchi S, McNally EM, Ben Othmane K, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science. 1995;270(5237):819-822.
16. Nigro V, de Sa Moriera E, Piluso G, et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD 2F, is caused by a mutation in the β-sarcoglycan gene. Nat Genet. 1996;14(2):195-198.
17. Ginjaar HB, van der Kooi AJ, Ceelie H, et al. Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. J Neurol 2000;247(7):524-529.
18. Angelini C, Fanin M, Freda MP, et al. The clinical spectrum of sarcoglycanopathies. Neurology. 1999;52(1):176-179.
19. Boito C, Fanin M, Siciliano G, et al. Novel sarcoglycan gene mutations in a large cohort of Italian patients. J Med Genet. 2003;40(5):e67.
20. Bonnemann CG, Passos-Bueno R, McNally EM, et al. Genomic screening for beta-sarcoglycan mutations: Missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum Mol Genet. 1996;5(12):1953-1961.
21. Moreira ES, Vainzof M, Suzuki OT, et al. Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. J Med Genet. 2003;40(2):E12.
22. Melacini P, Fanin M, Duggan DJ, et al. Heart involvement in muscular dystrophies due to sarcoglycan gene mutations. Muscle Nerve. 1999;22(4):473-479.
23. Bönnemann CG, Darras BT, Lidov HGW, et al. Strength improvement on prednisone in a patient with limb-girdle muscular dystrophy 2C (primary γ-sarcoglycanopathy). Ann Neurol. 1997;42(3):531-532, P116.
24. Brockington M, Yuva Y, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet. 2001;10(25):2851-2859.
25. Mercuri E, Brockington M, Straub V, et al. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol 2003;53(4):537-542.
26. Beltran-Valero de Bernabe D, Voit T, Longman C, et al. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet. 2004;41(5):e61.
27. Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology. 2003;60:1246-1251.
28. Poppe M, Bourke J, Eagle M, et al. Cardiac and respiratory failure in limb-girdle muscular dystrophy 21. Ann Neurol. 2004;56(5):738-741.
29. Richard I, Roudaut C, Saenz A, et al. Calpainopathy-A survey of mutations and polymorphisms. Am J Hum Genet. 1999;64(6):1524-1540.
30. Fanin M, Fulizio L, Nascimbeni AC, et al. Molecular diagnosis in LGMD2A: mutation analysis or protein testing? Hum Mutat. 2004;24(1):52-62.
31. Saenz A, Leturcq F, Cobo AM, et al. LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. Brain. 2005;128(pt 4):732-742.
32. Erb W. Dystrophia muscularis progressiva: Clinical and pathological studies [German]. Dtsch Z Nervenheilk. 1891;1:172-261.
33. Bashir R, Britton S, Strachan T, et al. A gene related to Caenorhabditis elegans spermatogenisis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet. 1998;20(1):37-42.
34. Liu J, Aoki M, Ilia I, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle musuclar dystrophy. Nat Genet. 1998;20(1):31-36.
35. Bansal D, Miyake K, Vogel SS, et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature. 2003;423(6936):168-172.
36. Linssen WHIP, Notermans NC, Van der Graaf Y, et al. Miyoshi-type distal muscular dystrophy: Clincal spectrum in 24 Dutch patients. Brain. 1997;120(pt 11):1989-1996.
37. Argov Z, Sadeh M, Mazor K, et al. Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features. Brain. 2000;123(pt 6):1229-1237.
38. Mahjneh I, Marconi G, Bushby K, et al. Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. Neuromuscul Disord. 2001;11(1):20-26.
39. Anderson LV, Davison K. Multiplex Western blotting system for the analysis of muscular dystrophy proteins. Am J Pathol. 1999;154(4):1017-1022.
40. Moreira ES, Wiltshire TJ, Faulkner G, et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet. 2000;24(2):163-166.
41. 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. 2002;70(3):663-672.
42. Schoser BG, Frosk P, Engel AG, et al. Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. Ann Neurol. 2005;57(4):591-595.
43. Hauser MA, Korrigan SK, Salmikangas P, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet. 2000;9(14):2141-2147.
44. Hauser MA, Conde CB, Kowaljow V, et al. myotilin Mutation Found in Second Pedigree with LGMD1A. Am J Hum Genet. 2002; 71(6):1428-1432.
45. Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology. 2004;62(8):1363-1371.
46. Minetti C, Sotgia F, Bruno C, et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet. 1998;18(4):365-368.
47. Carbone I, Bruno C, Sotgia F, et al. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology. 2000;54(6):1373-1376.
48. Herrmann R, Straub V, Blank M, et al. Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. Hum Mol Genet. 2000;9(15):2335-2340.
49. Betz RC, Schoser BG, Kasper D, et al. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet. 2001;28(3):218-219.
50. Muchir A, Bonne G, van der Kooi AJ, 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. 2000;9(9):1453-1459.
51. Bonne G, Di Barletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery- Dreifuss muscular dystrophy. Nat Genet. 1999; 21(3):285-288.
52. van der Kooi AJ, Ledderhof TM, de Voogt WG, et al. A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. Ann Neurol. 1996; 39(5):636-642.
53. Bonne G, Mercuri E, Muchir A, et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol. 2000;48(2):170-180.
54. Maraldi NM, Squarzoni S, Sabatelli P, et al. Laminopathies: involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases. J Cell Physiol. 2005;203(2):319-327.
55. Kirschner J, Brune T, Wehnert M, et al. p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. Ann Neurol. 2005;57(1):148-151.
56. Muntoni F, Voit T. The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul Disord. 2004;14(10):635-649.
57. Tan E, Topaloglu H, Sewry C, et al. Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency. Neuromusc Disord. 1997;7(2):85-89.
58. Bertini E, Pepe G. Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Eur J Paediatr Neurol. 2002;6(4):193-198.
59. Jöbsis GJ, Boers JM, Barth PG, de Visser M. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain. 1999;122:649-655.
60. Scacheri PC, Gillanders EM, Subramony SH, et al. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Neurology. 2002;58(4):593-602.
61. Lampe AK, Dünn DM, von Niederhausern AC, et al. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet. 2005;42(2):108-120.
62. Muntoni F, Lichtarowicz-Krynska EJ, Sewry CA, et al. Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. Neuromuscul Disord. 1998;8(2):72-76.