The phenotype of limb-girdle muscular dystrophy type 2I

Neurology

Volumn 60, Issue 8, 2003, Pages 1246-1251

  Poppe, M ^a   Cree, L ^a   Bourke, J ^a   Eagle, M ^a   Anderson, L V B ^a   Birchall, D ^a   Brockington, M ^b   Buddles, M ^a   Busby, M ^c   Muntoni, F ^b   Wills, A ^d   Bushby, Kate ^a,e  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

^c ST LUKE S HOSPITAL   (United Kingdom)

^d NOTTINGHAM UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

^e INSTITUTE OF HUMAN GENETICS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; LAMININ;

ADOLESCENT; ADULT; ARTICLE; CARDIOVASCULAR SYSTEM; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DISEASE CLASSIFICATION; DISEASE EXACERBATION; FEMALE; FUKUTIN RELATED PROTEIN GENE; FUNCTIONAL ASSESSMENT; GASTROCNEMIUS MUSCLE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCLE BIOPSY; MUSCLE HYPERTROPHY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEFECT; PROTEIN EXPRESSION; RESPIRATORY SYSTEM;

EID: 0037461292     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000058902.88181.3D     Document Type: Article

References (23)

1. Beckmann JS, Brown RH, Muntoni F, Urtizberea A, Bonnemann C, Bushby KM. 66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands. Neuromuscul Disord 1999;9:436-445.
2. Bushby KM. The limb girdle muscular dystrophies - multiple genes, multiple mechanisms. Hum Mol Genet 1999;8:1875-1882.
3. Bushby KM. Making sense of the limb-girdle muscular dystrophies. Brain 1999;122:1403-1420.
4. O'Brien KF, Kunkel LM. Dystrophin and muscular dystrophy. Past, present, and future. Mol Genet Metabol 2001;74:75-88.
5. th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden 12.4.-14.4.02. Neuromuscul Disord 2002;13:80-90.
6. Brockington M, Blake DJ, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha-2 deficiency and abnormal glycosilation of alpha-dystroglycan. Am J Hum Genet 2001;69:1189-1209.
7. 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 2001;10:2851-2859.
8. Driss A, Amouri R, Ben Hamida C, Souilem S, Gouidier-Khouja N, Hentati F. A new locus for autosomal-recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q3.3. Neuromuscul Disord 2000;10:240-246.
9. Bushby K, Anderson LV, Pollitt C, Naom I, Muntoni F, Bindoff L. Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. Brain 1998;121:581-588.
10. Anderson LV, Davison K. Multiplex western blotting system for the analysis of muscular dystrophy proteins. Am J Pathol 1999;154:1017-1022.
11. Anderson LV. Analysis of protein expression in muscular dystrophy. In: Bushby K, Anderson LVB, eds. Muscular dystrophy. Methods and protocols. Totowa, NJ: Humana Press, 2001;319-325.
12. Anderson LV. Multiplex western blot analysis of muscular dystrophy. In: Bushby K, Anderson LV, eds. Muscular dystrophy. Methods and protocols. Totowa, NJ: Humana Press, 2001;369-387.
13. Sewry CA, Taylor J, Anderson LV, et al. Abnormalities in alpha, beta and gamma sarcoglycan in patients with limb-girdle muscular dystrophy. Neuromuscul Disord 1996;6:467-474.
14. Duggan DJ, Gorospe JR, Fanin M, Hoffmann EP, Angelini C. Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med 1997;336:618-624.
15. 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 1998;20:31-36.
16. Mahjneh I, Marconi G, Bushby K, Anderson LVB, Tolvanen-Mahjneh, Somer H. Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshift dysferlin mutations. Neuromuscul Disord 2001;11:20-26.
17. Pollitt C, Anderson LV, Pogue R, Davison K, Pyle A, Bushby KM. The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach. Neuromuscul Disord 2001;11:287-296.
18. Pogue R, Anderson LV, Pyle A, et al. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord 2001;11:80-87.
19. Merlini L, Villanova M, Sabatelli P, Malandrini A, Maraldi NM. Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy. Neuromuscul Disord 1999;5:326-329.
20. Bushby KM, Anderson LV, Johnson MA, et al. Secondary protein alteration in muscular dystrophy. Neuromuscul Disord 2000;10:355.
21. Sewry CA. Immunocytochemical analysis of human muscular dystrophy. Microsc Res Tech 2000;48:142-154.
22. Henry MD, Campbell KP. Dystroglycan inside and out. Curr Opin Cell Biol 1999;11:602-607.
23. Ibraghimov-Beskrovnaya O, Milatovich A, Ozcelik T, Yang B, Francke U, Campbell KP. Dystroglycan: tissue distribution, human muscle cDNA, genomic structure and chromosome mapping. Am J Hum Genet 1992;51:A130.