The limb-girdle muscular dystrophies

European Journal of Paediatric Neurology

Volumn 5, Issue 5, 2001, Pages 213-214

  Bushby, Kate ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADHALIN; CALPAIN; CAVEOLIN 3; DYSFERLIN; GENE PRODUCT; LAMIN A; LAMIN C; SARCOGLYCAN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 13Q; CHROMOSOME 15Q; CHROMOSOME 17Q; CHROMOSOME 19Q; CHROMOSOME 1Q; CHROMOSOME 2P; CHROMOSOME 3P; CHROMOSOME 4Q; CHROMOSOME 5Q; CHROMOSOME 6Q; CHROMOSOME 7Q; CONTROLLED STUDY; GENE LOCATION; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; PRIORITY JOURNAL;

EID: 0034854411     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1053/ejpn.2001.0515     Document Type: Article

References (28)

1. Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form of chromosome 51
2. Myotilin is mutated in limb-girdle muscular dystrophy 1A
3. Genetic localisation of a newly recognised autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21
4. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery Dreifuss muscular dystrophy
5. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
6. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dysrophy to chromosome 6q23
7. Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7
8. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage
9. Mutations in the proteolytic enzyme, calpain 3, cause limb-girdle muscular dystrophy type 2A
10. Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins
11. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
12. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
13. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14
14. Dysferlin, a novel skeletal muscular gene, is mutated in Miyoshi myopathy and limb-girdle muscular dystrophy
15. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
16. A founder mutation in the γ-sarcoglycan gene of Gypsies possibly predating their migration out of India
17. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
18. Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity
19. Mutational diversity and hot spots in the α-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)
20. β-sarcoglycan: Characterisation and role in limb-girdle muscular dystrophy linked to 4q12
21. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
22. Genomic screening for β-sarcoglycan gene mutations: Missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD2E)
23. Main clinical feature of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families
24. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene
25. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12
26. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
27. 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
28. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3