Abnormalities in α-, β- and γ-sarcoglycan in patients with limb-girdle muscular dystrophy

Neuromuscular Disorders

Volumn 6, Issue 6, 1996, Pages 467-474

  Sewry, C A ^a,b   Taylor, J ^a   Anderson, L V B ^c   Ozawa, E ^d   Pogue, R ^e   Piccolo, F ^f   Bushby, K ^e   Dubowitz, V ^a   Muntoni, F ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b MRC CLINICAL SCIENCES CENTRE   (United Kingdom)

^c NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

^f INSTITUT COCHIN   (France)

Author keywords

Dystrophin associated glycoproteins; Immunocytochemistry; Limb girdle muscular dystrophy; Sarcoglycan

Indexed keywords

ALPHA SARCOGLYCAN; BETA SARCOGLYCAN; CREATINE KINASE; GAMMA SARCOGLYCAN; GLYCOPROTEIN; UNCLASSIFIED DRUG;

CHILD; CHROMOSOME XP; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE STUDY; CONFERENCE PAPER; CREATINE KINASE BLOOD LEVEL; DISEASE COURSE; DISEASE SEVERITY; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; HEART FUNCTION; HUMAN; IMMUNOCYTOCHEMISTRY; INTELLECT; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MOBILIZATION; MOLECULAR BIOLOGY; MORPHOLOGY; MUSCLE MITOCHONDRION; ONSET AGE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN DEFECT; PROTEIN EXPRESSION; RESPIRATORY FUNCTION;

AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CYTOSKELETAL PROTEINS; DISEASE PROGRESSION; DYSTROGLYCANS; DYSTROPHIN; EXTREMITIES; FEMALE; GENES, RECESSIVE; HEART; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MEMBRANE GLYCOPROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; RESPIRATORY FUNCTION TESTS; SARCOGLYCANS;

EID: 0030482285     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(96)00389-6     Document Type: Conference Paper

References (19)

1. 1. Bushby K, Beckmann J S. The limb-girdle muscular dystrophies - proposal for a new nomenclature. 30th and 31st ENMC Workshop, Naarden. Neuromusc Disord. 1995; 5: 337-343.
2. 2. Bushby K. Towards the classification of the autosomal recessive limb-girdle muscular dystrophies. Neuromusc Disord 1996; 6: 439-441.
3. 3. Ozawa E, Yoshida M, Suzuki A, Mizuno Y, Haiwara Y, Noguchi S. Dystrophin-associated proteins in muscular dystrophy. Hum Molec Genet 1995; 4: 1711-1716.
4. 4. Campbell K P. Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 1995; 80: 675-679.
5. 5. Bushby K, Beckmann J S. Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC workshop on limb-girdle muscular dystrophies. Neuromusc Disord 1995; 5: 71-74.
6. 6. Scott O M, Goddard C, Dubowitz V. Quantitation of muscle function in children. A prospective study in Duchenne muscular dystrophy. Muscle Nerve 1982; 5: 291-301.
7. 7. Dubowitz V. Muscle Biopsy: A practical approach. London: Baillière Tindall, 1989.
8. 8. Yoshida M, Suzuki A, Yamamoto H, Noguchi S, Mizuno Y, Ozawa E. Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl β-D-glucoside. Eur J Biochem 1994; 222: 1055-1061.
9. 9. Noguchi S, McNally E M, Ben Othmane K et al. Mutations in the dystrophin associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995; 270: 819-822.
10. 10. Sewry C A, Sansome A, Matsumura K, Campbell K P, Dubowitz V, Deficiency of the 50 kDa dystrophin-associated glycoprotein and abnormal expression of utrophin in two South Asian cousins with varaible expression of severe childhood autosomal recessive muscular dystrophy. Neuromusc Disord 1994; 4: 121-129.
11. 11. Roberds S L, Leturcq F, Allamand V, et al. Missense mutation in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994; 78: 625-633.
12. 12. Piccolo F, Roberds S L, Jeanpierre M, et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet 1995; 10: 243-245.
13. 13. Lim L E, Duclos F, Broux O, et al. β-sarcoglycan: characterisation and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1995; 11: 257-265.
14. 14. Bonnemann C G, Modi R, Noguchi S, et al. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy of the sarcoglycan complex. Nat Genet 1995; 11: 266-273.
15. 15. Matsumura K, Tomé F M S, Collin H, et al. Deficiency of the 50 K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 1992; 359: 320-322.
16. 16. Ben Othmane K, Ben Hamida M, Periak-Vance M, et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet 1992; 2: 315-317.
17. 17. Dubowitz V. Muscle Disorders in Childhood, 2nd edn. London: Saunders, 1995.
18. 18. Guerard M J, Sewry C A, Dubowitz V. Lobulated fibres in neuromuscular diseases. J Neurol Sci 1985; 69: 345-356.
19. 19. Sewry C A and Dubowitz V. Histochemical and immunocytochemical studies in neuromuscular disorders. In Walton J, Karpati G, Hilton-Jones D, eds. Disorders of Voluntary Muscle, 6th edn. Edinburgh: Churchill Livingstone, 1994; pp 261-318.