메뉴 건너뛰기




Volumn 9, Issue 5, 1996, Pages 380-388

The differential diagnosis of the human dystrophinopathies and related disorders

(1)  Kakulas, Byron A a  

a NONE

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN; UTROPHIN;

EID: 0029994173     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199610000-00012     Document Type: Review
Times cited : (10)

References (73)
  • 1
    • 0029873627 scopus 로고    scopus 로고
    • Clinical and histopathological features of abnormalities of the dystrophin-based membrane cytoskeleton
    • Hoffman EP: Clinical and histopathological features of abnormalities of the •• dystrophin-based membrane cytoskeleton. Brain Pathol 1996, 6:49-61. A definitive article bringing together Hoffman's many original discoveries. Clinical application is well considered of value to the neurologist.
    • (1996) Brain Pathol , vol.6 , pp. 49-61
    • Hoffman, E.P.1
  • 2
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organisation of the DMD gene in normal and affected Individuals
    • Koenig M, Huffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM: Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organisation of the DMD gene in normal and affected Individuals. Cell 1987, 50:509-517.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Huffman, E.P.2    Bertelson, C.J.3    Monaco, A.P.4    Feener, C.5    Kunkel, L.M.6
  • 3
    • 0025217703 scopus 로고
    • Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility
    • Koenig M, Kunkel LM: Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. J Biol Chem 1990, 265:4560-4566.
    • (1990) J Biol Chem , vol.265 , pp. 4560-4566
    • Koenig, M.1    Kunkel, L.M.2
  • 4
    • 0023904860 scopus 로고
    • The complete sequence of dystrophin predicts a rod-shaped cytoskeleton protein
    • Koenig M, Monaco AP, Kunkel LM: The complete sequence of dystrophin predicts a rod-shaped cytoskeleton protein. Cell 1988, 53:219-226.
    • (1988) Cell , vol.53 , pp. 219-226
    • Koenig, M.1    Monaco, A.P.2    Kunkel, L.M.3
  • 5
    • 10244272961 scopus 로고
    • Association of dystrophin and an integral membrane glycoprotein
    • Campbell K, Kahl S: Association of dystrophin and an integral membrane glycoprotein. Nature 1989, 122:809-823.
    • (1989) Nature , vol.122 , pp. 809-823
    • Campbell, K.1    Kahl, S.2
  • 6
    • 0029875997 scopus 로고    scopus 로고
    • Editorial review: Dystrophin associated proteins and muscular dystrophies: A glossary
    • Brown Jr RH: Editorial review: dystrophin associated proteins and muscular • dystrophies: a glossary. Brain Pathol 1996, 6:19-24. A useful review of this group of cytoskeleton proteins and their clinical relevance.
    • (1996) Brain Pathol , vol.6 , pp. 19-24
    • Brown Jr., R.H.1
  • 9
    • 0026519484 scopus 로고
    • Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart and brain development
    • Bies RD, Phelps SF, Cortex MD, Roberts R, Caskey CT, Chamberlain JS: Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart and brain development Nucleic Acids Res 1992, 20:1725-1731.
    • (1992) Nucleic Acids Res , vol.20 , pp. 1725-1731
    • Bies, R.D.1    Phelps, S.F.2    Cortex, M.D.3    Roberts, R.4    Caskey, C.T.5    Chamberlain, J.S.6
  • 11
    • 0024300196 scopus 로고
    • Immunoelectron microscopic localization of dystrophin in myofibres
    • Watkins SC, Huffman EP, Slayter HS, Kunkel LM: Immunoelectron microscopic localization of dystrophin in myofibres. Nature 1988, 333:863-866.
    • (1988) Nature , vol.333 , pp. 863-866
    • Watkins, S.C.1    Huffman, E.P.2    Slayter, H.S.3    Kunkel, L.M.4
  • 13
    • 0014009792 scopus 로고
    • Principles of myopathology as illustrated in the nutritional myopathy of the Rottnest Island quokka
    • Kakulas BA, Adams RO: Principles of myopathology as illustrated in the nutritional myopathy of the Rottnest Island quokka. Ann N Y Acad Sci 1966, 138:90-101.
    • (1966) Ann N Y Acad Sci , vol.138 , pp. 90-101
    • Kakulas, B.A.1    Adams, R.O.2
  • 15
    • 0343002679 scopus 로고
    • Quantitative assessment of muscle lesions in 19 Duchenne necropsies
    • Kakulas BAS, Yu Pu G: Quantitative assessment of muscle lesions in 19 Duchenne necropsies [Abstract]. Muscle Nerve 1986, 9:206.
    • (1986) Muscle Nerve , vol.9 , pp. 206
    • Kakulas, B.A.S.1    Yu Pu, G.2
  • 16
    • 84895256716 scopus 로고
    • Experimental and animal models of human neuromuscular disease
    • Edited by Walton JN, Karpati G, Hilton-Jones D. Edinburgh: Churchill Livingstone
    • Kakulas BA, Cooper BJ: Experimental and animal models of human neuromuscular disease. In Disorders of voluntary muscle 6E. Edited by Walton JN, Karpati G, Hilton-Jones D. Edinburgh: Churchill Livingstone; 1995:437-497.
    • (1995) Disorders of Voluntary Muscle 6E , pp. 437-497
    • Kakulas, B.A.1    Cooper, B.J.2
  • 17
    • 0010321937 scopus 로고
    • The fulminating neonatal form of expression in the golden retriever dog model of Duchenne muscular dystrophy
    • Howell JM, Kakulas BA, Pass DA, Genovese L, Rohnsen R, Lloyd F, Hobley WE: The fulminating neonatal form of expression in the golden retriever dog model of Duchenne muscular dystrophy [Abstract]. Muscle Nerve 1994, (suppl 1):S153.
    • (1994) Muscle Nerve , Issue.1 SUPPL.
    • Howell, J.M.1    Kakulas, B.A.2    Pass, D.A.3    Genovese, L.4    Rohnsen, R.5    Lloyd, F.6    Hobley, W.E.7
  • 19
    • 0029921129 scopus 로고    scopus 로고
    • Utrophin: A structural and functional comparison to dystrophin
    • Blake DJ, Tinsley JM, Davies KE: Utrophin: a structural and functional comparison • to dystrophin. Brain Pathol 1996, 6:37-47. A useful review of this dystrophin analogue. Upregulation of utrophin is investigated as a form of gene therapy.
    • (1996) Brain Pathol , vol.6 , pp. 37-47
    • Blake, D.J.1    Tinsley, J.M.2    Davies, K.E.3
  • 20
    • 0027726292 scopus 로고
    • Genotype/phenotype correlations in Duchenne/Becker muscular dystrophy
    • Edited by PartridgeTA. London: Chapman & Hall
    • Hoffman EP: Genotype/phenotype correlations in Duchenne/Becker muscular dystrophy. In Molecular and cell biology of muscular dystrophy. Edited by PartridgeTA. London: Chapman & Hall; 1993:12-36.
    • (1993) Molecular and Cell Biology of Muscular Dystrophy , pp. 12-36
    • Hoffman, E.P.1
  • 21
    • 0023718118 scopus 로고
    • An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
    • Monaco ASP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM: An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988, 2:90-95.
    • (1988) Genomics , vol.2 , pp. 90-95
    • Monaco, A.S.P.1    Bertelson, C.J.2    Liechti-Gallati, S.3    Moser, H.4    Kunkel, L.M.5
  • 22
    • 0026343877 scopus 로고
    • Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes
    • Roberts RG, Barby TFM, Manner E, Bobrow M, Bentley DR: Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am J Hum Genet 1991, 49:298-310.
    • (1991) Am J Hum Genet , vol.49 , pp. 298-310
    • Roberts, R.G.1    Barby, T.F.M.2    Manner, E.3    Bobrow, M.4    Bentley, D.R.5
  • 23
    • 0025774523 scopus 로고
    • A convenient multiplex PCR system for the detection of dystrophin gene deletions: A comparative analysis with cDNA hybridization shows mistyping by both methods
    • Abbs S, Yau SC, Clark S, Mathew CG, Bobrow M: A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridization shows mistyping by both methods. J Med Genet 1991, 28:304-311.
    • (1991) J Med Genet , vol.28 , pp. 304-311
    • Abbs, S.1    Yau, S.C.2    Clark, S.3    Mathew, C.G.4    Bobrow, M.5
  • 25
    • 0026728276 scopus 로고
    • Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis
    • Ioannou P, Christopoulos G, Panayides K, Kleanthous M, Middleton L: Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis. Neurology 1992, 42:1783-1790.
    • (1992) Neurology , vol.42 , pp. 1783-1790
    • Ioannou, P.1    Christopoulos, G.2    Panayides, K.3    Kleanthous, M.4    Middleton, L.5
  • 26
    • 0025642715 scopus 로고
    • Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA
    • Roberts RG, Bentley RD, Barby TFM, Manners E, Bobrow M: Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA. Lancet 1990, 336:1523-1526.
    • (1990) Lancet , vol.336 , pp. 1523-1526
    • Roberts, R.G.1    Bentley, R.D.2    Barby, T.F.M.3    Manners, E.4    Bobrow, M.5
  • 27
    • 0025356842 scopus 로고
    • Differentiation of Becker muscular dystrophy from limb girdle muscular dystrophy and Kugelberg-Welander disease using cDNA probe
    • Laing NG, Mears ME, Thomas HE, Chandler DC, Layton MG, Goldblatt J, Kakulas BA: Differentiation of Becker muscular dystrophy from limb girdle muscular dystrophy and Kugelberg-Welander disease using cDNA probe. Med J Aust 1990, 152:270-271.
    • (1990) Med J Aust , vol.152 , pp. 270-271
    • Laing, N.G.1    Mears, M.E.2    Thomas, H.E.3    Chandler, D.C.4    Layton, M.G.5    Goldblatt, J.6    Kakulas, B.A.7
  • 30
    • 0024600620 scopus 로고
    • Association of dystrophin and an Integral membrane glycoprotein
    • Campbell K, Kahl S: Association of dystrophin and an Integral membrane glycoprotein. Nature 1989, 338:259-262.
    • (1989) Nature , vol.338 , pp. 259-262
    • Campbell, K.1    Kahl, S.2
  • 31
    • 0028914964 scopus 로고
    • Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
    • Campbell KP: Three muscular dystrophies: loss of cytoskeleton-•• extracellular matrix linkage. Cell 1995, 80:675-679. A description of the role of the basement membrane in muscular dystrophy pathogenesis by a pioneer in the field.
    • (1995) Cell , vol.80 , pp. 675-679
    • Campbell, K.P.1
  • 33
    • 0025242185 scopus 로고
    • Glycoprotein complex anchoring dystrophin to sarcolemma
    • Yoshida M, Ozawa E: Glycoprotein complex anchoring dystrophin to sarcolemma. J Biochem 1990, 108:748-752.
    • (1990) J Biochem , vol.108 , pp. 748-752
    • Yoshida, M.1    Ozawa, E.2
  • 37
    • 0029989286 scopus 로고    scopus 로고
    • Neuromuscular disorders: Gene location
    • Dubowitz V (Editor): Neuromuscular disorders: gene location. Neuromusc Disord 1996, 6:I-IX.
    • (1996) Neuromusc Disord , vol.6
    • Dubowitz, V.1
  • 38
    • 0030051194 scopus 로고    scopus 로고
    • Brief report: Deficiency of a dystrophin associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy
    • Fadic R, Sunada Y, Waclawik AJ, Buck S, Lewandowski PJ, Campbell KP, Lotz BP: Brief report: deficiency of a dystrophin associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy. New Eng J Med 1996, 334:362-366.
    • (1996) New Eng J Med , vol.334 , pp. 362-366
    • Fadic, R.1    Sunada, Y.2    Waclawik, A.J.3    Buck, S.4    Lewandowski, P.J.5    Campbell, K.P.6    Lotz, B.P.7
  • 43
    • 0028905205 scopus 로고
    • Mutations of the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
    • Richard I, Broux O, Allamand V, Fougerousse F, Chiannllkulchai N, Bourg N, •• Brenguier L, Devaud C, Pasturaud P, Roudaut C et al.: Mutations of the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995, 81:27-40. A report of the discovery of the genetic basis of one of the common forms of LGMD. The identification of calcium activated protease three mutations as a cause of muscular dystrophy is a major step forward.
    • (1995) Cell , vol.81 , pp. 27-40
    • Richard, I.1    Broux, O.2    Allamand, V.3    Fougerousse, F.4    Chiannllkulchai, N.5    Bourg, N.6    Brenguier, L.7    Devaud, C.8    Pasturaud, P.9    Roudaut, C.10
  • 47
    • 0029963979 scopus 로고    scopus 로고
    • Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island
    • Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, •• de Ubeda B, Collin H, Tome FS, Richard I, Beckmann J: Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island Brain 1996, 119:295-308. A very informative paper bringing together a great deal of previous research by this group. This is the definitive description of the disorder.
    • (1996) Brain , vol.119 , pp. 295-308
    • Fardeau, M.1    Hillaire, D.2    Mignard, C.3    Feingold, N.4    Feingold, J.5    Mignard, D.6    De Ubeda, B.7    Collin, H.8    Tome, F.S.9    Richard, I.10    Beckmann, J.11
  • 48
    • 0029057637 scopus 로고
    • Confirmation of the 2p locus for the mild autosomal recessive limb girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region
    • Passos-Bueno MR, Bashir R, Moreira ES, Vainzof M, Marie SK, Vasquez L, lughetti P, Bakker E, Keers S, Stephenson A et al.: Confirmation of the 2p locus for the mild autosomal recessive limb girdle muscular dystrophy gene (LGMD2B) In three families allows refinement of the candidate region. Genomics 1995, 27:192-195.
    • (1995) Genomics , vol.27 , pp. 192-195
    • Passos-Bueno, M.R.1    Bashir, R.2    Moreira, E.S.3    Vainzof, M.4    Marie, S.K.5    Vasquez, L.6    Lughetti, P.7    Bakker, E.8    Keers, S.9    Stephenson, A.10
  • 50
    • 0028354947 scopus 로고
    • Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco Indicates genetic homogeneity of the disease in North Africa
    • El Kerch F, Sefiani A, Azibi K, Boutaleb N, Yahyaoui M, Benthila A, Vinet MC, Leturcq F, Bachner L, Beckmann J et al.: Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco Indicates genetic homogeneity of the disease in North Africa. J Med Genet 1994, 31:342-343.
    • (1994) J Med Genet , vol.31 , pp. 342-343
    • El Kerch, F.1    Sefiani, A.2    Azibi, K.3    Boutaleb, N.4    Yahyaoui, M.5    Benthila, A.6    Vinet, M.C.7    Leturcq, F.8    Bachner, L.9    Beckmann, J.10
  • 54
    • 0026757138 scopus 로고
    • Deficiency of the 50k dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
    • Matsumura K, Tome FMS, Collin H, Azibi K, Chaouch M, Kaplan JC, Fardeau M, Campbell KP: Deficiency of the 50k dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 1992, 359:320-322.
    • (1992) Nature , vol.359 , pp. 320-322
    • Matsumura, K.1    Tome, F.M.S.2    Collin, H.3    Azibi, K.4    Chaouch, M.5    Kaplan, J.C.6    Fardeau, M.7    Campbell, K.P.8
  • 57
    • 0027484305 scopus 로고
    • Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries
    • Fardeau M, Matsumara K, Tome MS, Collin H, Leturco F, Kaplan JC, Campbell KP: Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries. CR Acad Sci Paris 1993, 316:799-804.
    • (1993) CR Acad Sci Paris , vol.316 , pp. 799-804
    • Fardeau, M.1    Matsumara, K.2    Tome, M.S.3    Collin, H.4    Leturco, F.5    Kaplan, J.C.6    Campbell, K.P.7
  • 58
    • 0029079528 scopus 로고
    • Complete deficiency of adhalin (50 kDA DAG) in skeletal muscle of malignant limb girdle muscular dystrophy
    • Kawai H, Inui T, Mitsui T, Campbell KP, Shimizu T, Matsumura K: Complete • deficiency of adhalin (50 kDA DAG) in skeletal muscle of malignant limb girdle muscular dystrophy [In Japanese]. Rinsho Shinkeigaku 1995, 35: 184-189. The first report of adhalinopathy in the Eastern hemispheres.
    • (1995) Rinsho Shinkeigaku , vol.35 , pp. 184-189
    • Kawai, H.1    Inui, T.2    Mitsui, T.3    Campbell, K.P.4    Shimizu, T.5    Matsumura, K.6
  • 59
    • 0029046994 scopus 로고
    • The frequency of patients with 50 kd dystrophin associated grycoprotein in Japan: Immunocytochemical analysis of 50DAG, 43 DAG dystrophin, and utrophin
    • Hayashi YK, Mizuno Y, Yoshida M, Nonaka I, Ozawa E, Arahata K: The frequency of patients with 50 kd dystrophin associated grycoprotein in Japan: immunocytochemical analysis of 50DAG, 43 DAG dystrophin, and utrophin. Neurology 1995, 45:551-554.
    • (1995) Neurology , vol.45 , pp. 551-554
    • Hayashi, Y.K.1    Mizuno, Y.2    Yoshida, M.3    Nonaka, I.4    Ozawa, E.5    Arahata, K.6
  • 62
    • 0029129370 scopus 로고
    • Adhalin gene mutatins and autosomal recessive limbgirdle muscular dystrophy
    • Campbell KP: Adhalin gene mutatins and autosomal recessive limbgirdle • muscular dystrophy. Ann Neurol 1995, 38:353-354. Recognition of mutations in the 50 kd dystrophin associated protein (adhalin) as a cause of LGMD.
    • (1995) Ann Neurol , vol.38 , pp. 353-354
    • Campbell, K.P.1
  • 64
    • 0028931768 scopus 로고
    • Genetic identity of Fukuyama type congenital muscular dystrophy and Walker-Warburg Syndrome
    • Toda T, Yoshioka M, Nakahori Y, Kanazawa I, Nakamura Y, Nakagome Y: Genetic identity of Fukuyama type congenital muscular dystrophy and Walker-Warburg Syndrome. Ann Neurol 1995, 37:99-101.
    • (1995) Ann Neurol , vol.37 , pp. 99-101
    • Toda, T.1    Yoshioka, M.2    Nakahori, Y.3    Kanazawa, I.4    Nakamura, Y.5    Nakagome, Y.6
  • 71
    • 0017259099 scopus 로고
    • Benign myopathy, with autosomal dominant inheritance - A report on three pedigrees
    • Behlem J, van Wijngaarden GK: Benign myopathy, with autosomal dominant inheritance - a report on three pedigrees. Brain 1976, 99:91-100.
    • (1976) Brain , vol.99 , pp. 91-100
    • Behlem, J.1    Van Wijngaarden, G.K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.