Clinical heterogeneity of adhalin deficiency

Annals of Neurology

Volumn 39, Issue 2, 1996, Pages 196-202

  Morandi, Lucia ^a   Barresi, Rita ^a   Di Blasi, Claudia ^a   Jung, Daniel ^b   Sunada, Yoshihide ^b   Confalonieri, Valeria ^a   Dworzak, Federica ^a   Mantegazza, Renato ^a   Antozzi, Carlo ^a   Jarre, Laura ^c   Pini, Antonella ^d   Gobbi, Giuseppe ^d   Bianchi, Carlo ^e   Cornelio, Ferdinando ^a   Campbell, Kevin P ^b   Mora, Marina ^a,f  

^a Ist Nazionale Neurologico C Besta ^*  (Italy)

^b UNIVERSITY OF IOWA   (United States)

^c REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^d S MARIA NUOVA HOSPITAL   (Italy)

^e Unione Italiana Lotta Distrofia M   (Italy)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADHALIN; CREATINE KINASE; DYSTROPHIN; LAMININ;

ADULT; ARTICLE; CHILD; CHROMOSOME 13; CHROMOSOME 17; CLINICAL ARTICLE; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DISEASE SEVERITY; DYSTROPHY; FEMALE; HUMAN; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MALE; MUSCULAR DYSTROPHY; MYOPATHY; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CYTOSKELETAL PROTEINS; DYSTROGLYCANS; DYSTROPHIN; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; LAMININ; MALE; MEMBRANE GLYCOPROTEINS; MUSCLE FIBERS; MUSCULAR DYSTROPHIES; SARCOGLYCANS;

EID: 9044223654     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410390209     Document Type: Article

References (30)

1. Ervasti, JM, Ohlendieck K, Kahl SD, et al. Deficiency of a glycoprotein component of the dystrophin complex in dyscrophic muscle. Nature 1990; 345:315-319
2. Yoshida M, Ozawa E. Glycoprotein complex anchoring dystrophin to sarcolemma. J Biochem 1990;108:748-752
3. Ervasti JM, Campbell KP. Membrane organization of the dystrophin-glycoprotein complex. Cell 1991;66:1121-1131
4. Ervasti JM, Kahl SD, Campbell KP. Purification of dystrophin from skeletal muscle. J Biol Chem 1991;266:9161-9165
5. Suzuki A, Yoshida M, Yamamoto H, Ozawa E. Glycoprotein-binding site of dystrophin is confined to the cystein-rich domain and the first half of the carboxy-terminal domain. FEBS Lett 1992;308:154-160
6. Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, et al. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 1992;355:696-702
7. Ervasti JM, Campbell KP. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 1993;122:809-823
8. Roberds SL, Anderson RD, Ibraghimov-Beskrovnaya O, Campbell KP. Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). J Biol Chem 1993;268:23739-23742
9. Yang B, Ibraghimov-Beskrovnaya O, Moomaw CR, et al. Heterogeneity of the 59-kDa dystrophin-associated protein revealed by cDNA cloning and expression. J Biol Chem 1994;269:6040-6044
10. Campbell KP. Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 1995;80:675-679
11. Sunada Y, Bernier SM, Kozak CA, et al. Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus. J Biol Chem 1994;269:13729-13732
12. Corrado K, Mills PL, Chamberlain JS. Deletion analysis of the dystrophin-actin binding domain. FEBS Lett 1994;334:255-260
13. Ohlendieck K, Campbell KP. Dystrophin-associated proteins are greatly reduced in skeletal muscle from mdx mice. J Cell Biol 1991;115:1685-1694
14. Ohlendieck K, Matsumura K, Ionasescu W, et al. Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma. Neurology 1993;43:795-800
15. Matsumura K, Tomé FMS, Collin H, et al. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 1992;359:320-322
16. Ben Hamida M, Fardeau M, Attia N. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve 1983;6:469-480
17. Ben Othmane K, Ben Hamida M, Pericak-Vance MA, et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nature Genet 1992;2:315-317
18. Azibi K, Bachner L, Beckmann JS, et al. Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to the chromosome 13q12. Hum Mol Genet 1993;2:1423-1428
19. McNally EM, Yoshiba M, Mizuno Y, et al. Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. Proc Natl Acad Sci USA 1994;90:9690-9694
20. Roberds SL, Leturcq F, Allamand V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994;78:625-633
21. Piccolo F, Roberds SL, Jeanpierre M, et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nature Genet 1995;10:243-245
22. Fardeau M, Matsumura K, Tomé FMS, et al. Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries. C R Acad Sci Paris 1993;316:799-804
23. Higuchi I, Yamada H, Fukunaga H, et al. Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin. J Clin Invest 1994;94:601-606
24. Hayashi YK, Mizuno Y, Yoshida M, et al. The frequency of patients with 50-kd dystrophin-associated glycoprotein (50 DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50 DAG, 43 DAG, dystrophin, and utrophin. Neurology 1995;45:551-554
25. Morandi L, Mora M, Bernasconi P, et al. Very small dystrophin molecule in a family with a mild form of Becker dystrophy. Neuromusc Disord 1993;3:65-70
26. Burgeson RE, Chiquet M, Deutzmann R, et al. A new nomenclature for the laminins. Matrix Biol 1994;14:209-211
27. Bulman DE, Murphy EG, Zubrzycka-Gaarn EE, et al. Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin. Am J Hum Genet 1991;48:295-304
28. Mizuno Y, Noguchi S, Yamamoto H, et al. Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle. Biochem Biophys Res Comm 1994;203:979-983
29. Passos-Bueno MR, Oliveira JR, Bakker E, et al. Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis. Hum Mol Genet 1993;2:1945-1947
30. Romero NB, Tomé FMS, Leturcq F, et al. Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprorein) deficiency. C R Acad Sci Paris 1994;317:70-76