메뉴 건너뛰기




Volumn 38, Issue 3, 1996, Pages 262-270

Clinical and molecular pathological features of severe childhood autosomal recessive muscular dystrophy in Saudi Arabia

Author keywords

[No Author keywords available]

Indexed keywords

ADHALIN; CREATINE KINASE; DYSTROPHIN;

EID: 0029863705     PISSN: 00121622     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1469-8749.1996.tb15089.x     Document Type: Article
Times cited : (15)

References (39)
  • 3
    • 3342897439 scopus 로고
    • Severe autosomal recessive limb-girdle muscular dystrophies frequent in Tunisia
    • Angelini C, Danieli GA, Fontanari D, editors. Amsterdam: Excerpta Medica
    • Ben Hamida, M, Fardeau M (1980) Severe autosomal recessive limb-girdle muscular dystrophies frequent in Tunisia. In: Angelini C, Danieli GA, Fontanari D, editors. Muscular Dystrophy Research: Advances and New Trends. Amsterdam: Excerpta Medica. p 143-6.
    • (1980) Muscular Dystrophy Research: Advances and New Trends , pp. 143-146
    • Ben Hamida, M.1    Fardeau, M.2
  • 4
    • 10544254321 scopus 로고
    • Etude génétique des myopathies en Tunisie
    • _ Marakchi D. (1980) Etude génétique des myopathies en Tunisie. Union Medicine 109: 1-8.
    • (1980) Union Medicine , vol.109 , pp. 1-8
    • Marakchi, D.1
  • 5
    • 0020606260 scopus 로고
    • Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia
    • _ Fardeau M, Attia N. (1983) Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle and Nerve 6: 469-80.
    • (1983) Muscle and Nerve , vol.6 , pp. 469-480
    • Fardeau, M.1    Attia, N.2
  • 6
    • 0025630428 scopus 로고
    • Presence of normal dystrophin in Tunisian severe childhood autosomal recessive muscular dystrophy
    • Clinical/Scientific notes
    • Ben Jelloun-Dellagi S, Chaffey P, Hentani F, Ben Hamida CH, Tome F, Colin H. (1990) Presence of normal dystrophin in Tunisian severe childhood autosomal recessive muscular dystrophy. Neurology 40: 1903 (Clinical/Scientific notes)
    • (1990) Neurology , vol.40 , pp. 1903
    • Ben Jelloun-Dellagi, S.1    Chaffey, P.2    Hentani, F.3    Ben Hamida, C.H.4    Tome, F.5    Colin, H.6
  • 8
    • 0027095821 scopus 로고
    • Cognitive functions in Duchenne muscular dystrophy: A reappraisal and comparison with spinal muscular atrophy
    • Billard C, Gillet P, Signoret JL, Uicaut E, Bertrand P, Fardeau M. (1992) Cognitive functions in Duchenne muscular dystrophy: a reappraisal and comparison with spinal muscular atrophy Neuromuscular Disorders 2: 371-8
    • (1992) Neuromuscular Disorders , vol.2 , pp. 371-378
    • Billard, C.1    Gillet, P.2    Signoret, J.L.3    Uicaut, E.4    Bertrand, P.5    Fardeau, M.6
  • 10
    • 3342959783 scopus 로고
    • Rapidly progressive limb girdle muscular dystrophy in childhood
    • Angelini C, Danieli GA, Fontanari D, editors. Amsterdam: Excerpta Medica
    • Dubowitz V. (1980) Rapidly progressive limb girdle muscular dystrophy in childhood. In: Angelini C, Danieli GA, Fontanari D, editors. Muscular Dystrophy Research: Advances and New Trends. Amsterdam: Excerpta Medica. p 129-33.
    • (1980) Muscular Dystrophy Research: Advances and New Trends , pp. 129-133
    • Dubowitz, V.1
  • 12
    • 0025998134 scopus 로고
    • Population frequencies of inherited neuromuscular diseases - A world survey
    • Emery AEH. (1991) Population frequencies of inherited neuromuscular diseases - a world survey. Neuromuscular Disorders 1: 19-29.
    • (1991) Neuromuscular Disorders , vol.1 , pp. 19-29
    • Emery, A.E.H.1
  • 13
    • 0025272250 scopus 로고
    • Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
    • Ervasti JM, Ohlendieck K, Kahl SD, Gaver MG, Campbell KP (1990) Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 345: 315-9.
    • (1990) Nature , vol.345 , pp. 315-319
    • Ervasti, J.M.1    Ohlendieck, K.2    Kahl, S.D.3    Gaver, M.G.4    Campbell, K.P.5
  • 17
    • 0014250116 scopus 로고
    • Limb girdle muscular dystrophy: Clinical manifestations and detection of preclinical disease
    • Jackson CE, Strehler DA. (1968) Limb girdle muscular dystrophy: clinical manifestations and detection of preclinical disease. Pediatrics 41: 495-502.
    • (1968) Pediatrics , vol.41 , pp. 495-502
    • Jackson, C.E.1    Strehler, D.A.2
  • 18
    • 0027244308 scopus 로고
    • Deficiency of dystrophin-associated proteins: A common mechanism leading to muscle cell necrosis in severe childhood muscular dystrophies
    • Matsumura K, Campbell KP. (1993) Deficiency of dystrophin-associated proteins: a common mechanism leading to muscle cell necrosis in severe childhood muscular dystrophies. Neuromuscular Disorders 3: 109-18.
    • (1993) Neuromuscular Disorders , vol.3 , pp. 109-118
    • Matsumura, K.1    Campbell, K.P.2
  • 19
    • 0026757138 scopus 로고
    • Deficiency of the 50k dystrophin- Associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
    • _ Tomé FMS, Collin H, Azibi K, Chaouch M. Kaplan JC, Fardeau M, Campbell KP. (1992) Deficiency of the 50k dystrophin- associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 359: 320-2.
    • (1992) Nature , vol.359 , pp. 320-322
    • Tomé, F.M.S.1    Collin, H.2    Azibi, K.3    Chaouch, M.4    Kaplan, J.C.5    Fardeau, M.6    Campbell, K.P.7
  • 21
    • 0026328022 scopus 로고
    • Dystrophin-associated proteins are greatly reduced in skeletal muscle from the mdx mice
    • Ohlendieck K, Campbell KP. (1991) Dystrophin-associated proteins are greatly reduced in skeletal muscle from the mdx mice. Journal of Cell Biology 115: 1685-94.
    • (1991) Journal of Cell Biology , vol.115 , pp. 1685-1694
    • Ohlendieck, K.1    Campbell, K.P.2
  • 28
    • 0028012859 scopus 로고
    • Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (5-kDa dystrophin-associate glycoprotein) deficiency
    • Romero NB, Tomé FMS, Leturcq F, El Kerch F, Azibi K, Bachner L. et al. (1994) Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (5-kDa dystrophin-associate glycoprotein) deficiency. C R Academic Sciences, Paris Ser. III, Sci Vie 317: 70-6.
    • (1994) C R Academic Sciences, Paris Ser. III, Sci Vie , vol.317 , pp. 70-76
    • Romero, N.B.1    Tomé, F.M.S.2    Leturcq, F.3    El Kerch, F.4    Azibi, K.5    Bachner, L.6
  • 31
    • 0022351779 scopus 로고
    • Childhood muscular dystrophy: An African review
    • _ (1985) Childhood muscular dystrophy: an African review. Annals of Tropical Paediatrics 5:167-73.
    • (1985) Annals of Tropical Paediatrics , vol.5 , pp. 167-173
  • 33
    • 0017259056 scopus 로고
    • Autosomal recessive muscular dystrophy in Manitoba Hutterities
    • Shokeir MHK, Kobrinsky NL. (1976) Autosomal recessive muscular dystrophy in Manitoba Hutterities. Clinical Genetics 9: 197-202.
    • (1976) Clinical Genetics , vol.9 , pp. 197-202
    • Shokeir, M.H.K.1    Kobrinsky, N.L.2
  • 34
    • 0015494066 scopus 로고
    • Four cases of Duchenne-type muscular dystrophy in girls
    • Stern LM. (1972) Four cases of Duchenne-type muscular dystrophy in girls. Medical Journal of Australia 2: 1066-9.
    • (1972) Medical Journal of Australia , vol.2 , pp. 1066-1069
    • Stern, L.M.1
  • 36
    • 0002965038 scopus 로고
    • Clinical examination of the neuromuscular system
    • Walton, JN, editor. London: Churchill Livingstone
    • Walton JN. (1981) Clinical examination of the neuromuscular system. In: Walton, JN, editor. Disorders of Voluntary Muscle. 4th ed London: Churchill Livingstone. p 452-4
    • (1981) Disorders of Voluntary Muscle. 4th Ed , pp. 452-454
    • Walton, J.N.1
  • 37
    • 0000653466 scopus 로고
    • The muscular dystrophies
    • Walton J, editor. Edinburgh: Churchill Livingstone
    • _ Gardner-Medwin D. (1988) The muscular dystrophies. In: Walton J, editor. Disorders of Voluntary Muscle. 5th ed. Edinburgh: Churchill Livingstone, p 519-68.
    • (1988) Disorders of Voluntary Muscle. 5th Ed. , pp. 519-568
    • Gardner-Medwin, D.1
  • 38
    • 0017294128 scopus 로고
    • The patterns of spinal deformity in Duchenne muscular dystrophy
    • Wilkins KE, Gibson DA. (1976) The patterns of spinal deformity in Duchenne muscular dystrophy. Journal of Bone and Joint Surgery 58-A: 24-32.
    • (1976) Journal of Bone and Joint Surgery , vol.58 A , pp. 24-32
    • Wilkins, K.E.1    Gibson, D.A.2
  • 39
    • 0024307961 scopus 로고
    • Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance
    • Zatz M, Passos-Bueno MR, Rapaport D. (1989) Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance. American Journal of Medical Genetics 32: 407-10.
    • (1989) American Journal of Medical Genetics , vol.32 , pp. 407-410
    • Zatz, M.1    Passos-Bueno, M.R.2    Rapaport, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.