메뉴 건너뛰기




Volumn 119, Issue 1, 1996, Pages 295-308

Juvenile limb-girdle muscular dystrophy Clinical, histopathological and genetic data from a small community living in the Reunion Island

Author keywords

Calpain; Epidemiology; Limb girdle muscular dystrophy; Molecular genetics; Muscle biopsy

Indexed keywords

CALPAIN;

EID: 0029963979     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/119.1.295     Document Type: Article
Times cited : (167)

References (63)
  • 1
    • 0028997311 scopus 로고
    • Preferential localization of the Limb-Girdle Muscular Dystrophy type 2A gene in the proximal part of a 1cM 15q15-1-q15-3
    • Allamand V, Broux O, Richard I, Fougerousse F, Chiannilkuchai N, Bourg N, et al. Preferential localization of the Limb-Girdle Muscular Dystrophy type 2A gene in the proximal part of a 1cM 15q15-1-q15-3. Am J Hum Genet 1995; 56: 1417-30.
    • (1995) Am J Hum Genet , vol.56 , pp. 1417-1430
    • Allamand, V.1    Broux, O.2    Richard, I.3    Fougerousse, F.4    Chiannilkuchai, N.5    Bourg, N.6
  • 3
    • 0342765778 scopus 로고
    • The myopathies or muscular dystrophies
    • Batten FE. The myopathies or muscular dystrophies. Q J Med 1909; 3: 313.
    • (1909) Q J Med , vol.3 , pp. 313
    • Batten, F.E.1
  • 5
    • 0011371331 scopus 로고
    • On pseudohypertrophic and allied types of progressive muscular dystrophy
    • Fischer RA, editor. London: Cambridge University Press
    • Bell J. On pseudohypertrophic and allied types of progressive muscular dystrophy. In: Fischer RA, editor. The treasury of human inheritance, Vol. 4, Pt. 4. London: Cambridge University Press, 1943: 283-342.
    • (1943) The Treasury of Human Inheritance , vol.4 , Issue.4 PT , pp. 283-342
    • Bell, J.1
  • 6
    • 3342897439 scopus 로고
    • Severe, autosomal recessive, limbgirdle muscular dystrophies frequent in Tunisia
    • Angelini C, Danieli GA, Fontanari D, editors. Amsterdam: Excerpta Medica
    • Ben Hamida M, Fardeau M. Severe, autosomal recessive, limbgirdle muscular dystrophies frequent in Tunisia. In: Angelini C, Danieli GA, Fontanari D, editors. Muscular dystrophy research: advances and new trends. Amsterdam: Excerpta Medica, 1980: 143-6.
    • (1980) Muscular Dystrophy Research: Advances and New Trends , pp. 143-146
    • Ben Hamida, M.1    Fardeau, M.2
  • 7
    • 0020606260 scopus 로고
    • Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia
    • Ben Hamida M, Fardeau M, Attia N. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve 1983; 6: 469-80.
    • (1983) Muscle Nerve , vol.6 , pp. 469-480
    • Ben Hamida, M.1    Fardeau, M.2    Attia, N.3
  • 8
    • 0027032694 scopus 로고
    • Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophies to the pericentromeric region of chromosome 13q
    • Ben Othmane K, Ben Hamida M, Pericak-Vance M, Ben Hamida C, Blel S, Carter SC, et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophies to the pericentromeric region of chromosome 13q. Nat Genet 1992; 2: 315-17.
    • (1992) Nat Genet , vol.2 , pp. 315-317
    • Ben Othmane, K.1    Ben Hamida, M.2    Pericak-Vance, M.3    Ben Hamida, C.4    Blel, S.5    Carter, S.C.6
  • 9
    • 0011290733 scopus 로고
    • The limb-girdle syndromes
    • Vinken PJ, Bruyn GW, Ringel SP, editors. Amsterdam: North-Holland
    • Bradley WG. The limb-girdle syndromes. In: Vinken PJ, Bruyn GW, Ringel SP, editors. Handbook of clinical neurology. Vol. 40. Amsterdam: North-Holland, 1979: 433-69.
    • (1979) Handbook of Clinical Neurology , vol.40 , pp. 433-469
    • Bradley, W.G.1
  • 11
    • 0026636142 scopus 로고
    • th ENMC sponsored international workshop - The 'limb-girdle' muscular dystrophies
    • th ENMC sponsored international workshop - the 'limb-girdle' muscular dystrophies. Neuromuscul Disord 1992; 2: 3-5.
    • (1992) Neuromuscul Disord , vol.2 , pp. 3-5
    • Bushby, K.1
  • 12
    • 0028835527 scopus 로고
    • Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC consortium on limb-girdle dystrophies
    • Bushby KMD. Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC consortium on limb-girdle dystrophies. Neuromuscul Disord 1995; 1: 71-4.
    • (1995) Neuromuscul Disord , vol.1 , pp. 71-74
    • Bushby, K.M.D.1
  • 13
    • 0027537918 scopus 로고
    • The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history
    • published erratum appears in J Neurol 1993; 240: 453
    • Bushby KMD. Gardner-Medwin D. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history [published erratum appears in J Neurol 1993; 240: 453] J Neurol 1993; 240: 98-104.
    • (1993) J Neurol , vol.240 , pp. 98-104
    • Bushby, K.M.D.1    Gardner-Medwin, D.2
  • 14
    • 0000511029 scopus 로고
    • Illegitimate transcription: Transcription of any gene in any cell type
    • Chelly J, Concordet JP, Kaplan JC, Kahn A. Illegitimate transcription: transcription of any gene in any cell type. Proc Natl Acad Sci USA 1989; 86: 2617-21.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2617-2621
    • Chelly, J.1    Concordet, J.P.2    Kaplan, J.C.3    Kahn, A.4
  • 15
    • 0028960871 scopus 로고
    • A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD 2A) gene
    • Chiannilkulchai N, Pasturaud P, Richard I, Auffray C, Beckmann JS. A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD 2A) gene. Hum Mol Genet 1995; 4: 717-25.
    • (1995) Hum Mol Genet , vol.4 , pp. 717-725
    • Chiannilkulchai, N.1    Pasturaud, P.2    Richard, I.3    Auffray, C.4    Beckmann, J.S.5
  • 17
    • 0016206413 scopus 로고
    • A late autosomal dominant form of limb-girdle muscular dystrophy. A clinical, genetic, and morphological study
    • De Coster W, De Reuck J, Thiery E. A late autosomal dominant form of limb-girdle muscular dystrophy. A clinical, genetic, and morphological study. Eur Neurol 1974; 12: 159-72.
    • (1974) Eur Neurol , vol.12 , pp. 159-172
    • De Coster, W.1    De Reuck, J.2    Thiery, E.3
  • 19
    • 3342959783 scopus 로고
    • Rapidly progressive limb girdle muscular dystrophy in childhood
    • Angelini C, Danieli GA, Fontanari D, editors. Amsterdam: Excerpta Medica
    • Dubowitz V. 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, 1980: 129-33.
    • (1980) Muscular Dystrophy Research: Advances and New Trends , pp. 129-133
    • Dubowitz, V.1
  • 21
    • 0025998134 scopus 로고
    • Population frequencies of inherited neuromuscular diseases - A world survey.
    • Emery AEH. Population frequencies of inherited neuromuscular diseases - a world survey. [Review]. Neuromuscul Disord 1991; 1: 19-29.
    • (1991) Neuromuscul Disord , vol.1 , pp. 19-29
    • Emery, A.E.H.1
  • 22
    • 0001302916 scopus 로고
    • Ueber die 'juvenile Form' der progressiven Muskelatrophie und ihre Beziehungen zur sogenannten Pseudohypertrophie der Muskeln
    • Erb WH. Ueber die 'juvenile Form' der progressiven Muskelatrophie und ihre Beziehungen zur sogenannten Pseudohypertrophie der Muskeln. Dt Arch Klin Med 1884; 34: 467-519.
    • (1884) Dt Arch Klin Med , vol.34 , pp. 467-519
    • Erb, W.H.1
  • 23
    • 34250546405 scopus 로고
    • Dystrophia muscularis progressiva
    • Erb W. Dystrophia muscularis progressiva. Dt Z Nervheilk 1891; 1: 13-94, 173-261.
    • (1891) Dt Z Nervheilk , vol.1 , pp. 13-94
    • Erb, W.1
  • 24
    • 0027275643 scopus 로고
    • A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
    • Ervasti JM, Campbell KP. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 1993; 122: 809-23.
    • (1993) J Cell Biol , vol.122 , pp. 809-823
    • Ervasti, J.M.1    Campbell, K.P.2
  • 26
    • 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, Matsumura K, Tomé FMS, Collin H, Leturcq F, Kaplan JC, 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 III, Sciences de la vie/Life Sciences 1993; 316: 799-804.
    • (1993) C R Acad Sci III, Sciences De La Vie/Life Sciences , vol.316 , pp. 799-804
    • Fardeau, M.1    Matsumura, K.2    Tomé, F.M.S.3    Collin, H.4    Leturcq, F.5    Kaplan, J.C.6
  • 28
    • 0002670572 scopus 로고
    • The clinical examination of the voluntary muscles
    • Walton JN. editor. Edinburgh: Churchill Livingstone
    • Gardner-Medwin D, Walton JN. The clinical examination of the voluntary muscles. In: Walton JN. editor. Disorders of voluntary muscles. 3rd ed. Edinburgh: Churchill Livingstone. 1974: 517-60.
    • (1974) Disorders of Voluntary Muscles. 3rd Ed. , pp. 517-560
    • Gardner-Medwin, D.1    Walton, J.N.2
  • 29
    • 0023856168 scopus 로고
    • Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy
    • Gilchrist JM, Pericak-Vance M, Silverman L, Roses AD. Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. Neurology 1988; 38: 5-9.
    • (1988) Neurology , vol.38 , pp. 5-9
    • Gilchrist, J.M.1    Pericak-Vance, M.2    Silverman, L.3    Roses, A.D.4
  • 30
    • 0000729228 scopus 로고
    • The relative importance of principal and modifying genes in determining some human diseases
    • Haldane JBS. The relative importance of principal and modifying genes in determining some human diseases. J Genetics 1941; 41: 149-57.
    • (1941) J Genetics , vol.41 , pp. 149-157
    • Haldane, J.B.S.1
  • 31
    • 0024332141 scopus 로고
    • Dystrophin abnormalities in Duchenne/Becker muscular dystrophy
    • Huffman EP, Kunkel LM. Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. [Review]. Neuron 1989; 2: 1019-29.
    • (1989) Neuron , vol.2 , pp. 1019-1029
    • Huffman, E.P.1    Kunkel, L.M.2
  • 33
    • 0002896539 scopus 로고
    • Progressive muscular dystrophy: Autosomal recessive type
    • Jackson CE, Carey JH. Progressive muscular dystrophy: autosomal recessive type. Pediatrics 1961; 28: 77-84.
    • (1961) Pediatrics , vol.28 , pp. 77-84
    • Jackson, C.E.1    Carey, J.H.2
  • 34
    • 0014250116 scopus 로고
    • Limb-girdle muscular dystrophy: Clinical manifestations and detection of preclinical disease
    • Jackson CE, Strehler DA. Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease. Pediatrics 1968; 41: 495-502.
    • (1968) Pediatrics , vol.41 , pp. 495-502
    • Jackson, C.E.1    Strehler, D.A.2
  • 35
    • 84941017376 scopus 로고
    • Autosomal recessive inheritance of Duchenne-type muscular dystrophy
    • Kloepfer HW, Talley C. Autosomal recessive inheritance of Duchenne-type muscular dystrophy. Acta Genet (Basel) 1957; 7: 314-18.
    • (1957) Acta Genet (Basel) , vol.7 , pp. 314-318
    • Kloepfer, H.W.1    Talley, C.2
  • 36
    • 0002549081 scopus 로고
    • De la myopathie atrophique progressive. Myopathie héréditaire, sans neuropathic, débutant d'ordinaire dans l'enfance, par la face
    • Landouzy L, Dejerine J. De la myopathie atrophique progressive. Myopathie héréditaire, sans neuropathic, débutant d'ordinaire dans l'enfance, par la face. Rev Med 1885; 5: 81-117, 253-366.
    • (1885) Rev Med , vol.5 , pp. 81-117
    • Landouzy, L.1    Dejerine, J.2
  • 37
    • 3342992479 scopus 로고
    • Nouvelles recherches cliniques et anatomopathologiques sur la myopathie atrophique progressive. A propos de six observations nouvelles, dont une avec autopsie
    • Landouzy L, Dejerine J. Nouvelles recherches cliniques et anatomopathologiques sur la myopathie atrophique progressive. A propos de six observations nouvelles, dont une avec autopsie. Rev Med 1886; 6: 977-1027.
    • (1886) Rev Med , vol.6 , pp. 977-1027
    • Landouzy, L.1    Dejerine, J.2
  • 38
    • 76949136736 scopus 로고
    • Dystrophia musculorum progressiva
    • Levison H. Dystrophia musculorum progressiva. Acta Psychiat Neurol Scandinav 1951; Suppl 76: 1-176.
    • (1951) Acta Psychiat Neurol Scandinav , vol.76 SUPPL , pp. 1-176
    • Levison, H.1
  • 40
    • 0027102414 scopus 로고
    • A large inbred Palestinian family with two forms of muscular dystrophy
    • Mahjneh I, Vannelli G, Bushby K, Marconi GP. A large inbred Palestinian family with two forms of muscular dystrophy. Neuromuscul Disord 1992; 2: 277-83.
    • (1992) Neuromuscul Disord , vol.2 , pp. 277-283
    • Mahjneh, I.1    Vannelli, G.2    Bushby, K.3    Marconi, G.P.4
  • 41
    • 0026757138 scopus 로고
    • Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
    • Matsumura K, Tomé FMS, Collin H, Azibi K, Chaouch M, Kaplan JC, et al. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 1992; 359: 320-2.
    • (1992) Nature , vol.359 , pp. 320-322
    • Matsumura, K.1    Tomé, F.M.S.2    Collin, H.3    Azibi, K.4    Chaouch, M.5    Kaplan, J.C.6
  • 42
    • 0025789929 scopus 로고
    • Autosomal recessive Duchenne-like muscular dystrophy: Molecular and histochemical results
    • McGuire SA, Fischbeck KH. Autosomal recessive Duchenne-like muscular dystrophy: molecular and histochemical results. Muscle Nerve 1991; 14: 1209-12.
    • (1991) Muscle Nerve , vol.14 , pp. 1209-1212
    • McGuire, S.A.1    Fischbeck, K.H.2
  • 43
    • 0342314368 scopus 로고
    • Aids to the investigation of peripheral nerve injuries
    • London: HMSO
    • Medical Research Council. Aids to the investigation of peripheral nerve injuries. Medical Research Council War Memorandum no. 7. 2nd ed. London: HMSO, 1943.
    • (1943) Medical Research Council War Memorandum No. 7. 2nd Ed.
  • 44
    • 2542626317 scopus 로고
    • Ueber die hereditären Nervenkrankheiten
    • Möbius PJ. Ueber die hereditären Nervenkrankheiten. Samml Klin Votr 1879; 171: 1505-31.
    • (1879) Samml Klin Votr , vol.171 , pp. 1505-1531
    • Möbius, P.J.1
  • 45
    • 26844514319 scopus 로고
    • Formal genetics of muscular dystrophy
    • Morton NE, Chung CS. Formal genetics of muscular dystrophy. Am J Hum Genet 1959; 11: 360-79.
    • (1959) Am J Hum Genet , vol.11 , pp. 360-379
    • Morton, N.E.1    Chung, C.S.2
  • 46
    • 17644431425 scopus 로고
    • Progressive Muskeldystrophie. VIII. Haüfigkeit, Klinik und Genetik der Typen I und II
    • Moser H, Wiesmann U, Richterich R, Rossi E. Progressive Muskeldystrophie. VIII. Haüfigkeit, Klinik und Genetik der Typen I und II. Schweiz Med Wochenschr 1966; 96: 169-74, 205-11.
    • (1966) Schweiz Med Wochenschr , vol.96 , pp. 169-174
    • Moser, H.1    Wiesmann, U.2    Richterich, R.3    Rossi, E.4
  • 48
    • 0027215588 scopus 로고
    • Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families
    • Passos-Bueno MR, Richard I, Vainzof M, Fougerousse F, Weissenbach J, Broux O, et al. Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families. J Med Genet 1993; 30: 385-7.
    • (1993) J Med Genet , vol.30 , pp. 385-387
    • Passos-Bueno, M.R.1    Richard, I.2    Vainzof, M.3    Fougerousse, F.4    Weissenbach, J.5    Broux, O.6
  • 49
    • 3342880046 scopus 로고
    • Eine einfach rezessive Form der Dystrophia musculorum progressiva mit einer Sippenstammtafel aus dem Emmental (Schweiz.)
    • Pfändler U. Eine einfach rezessive Form der Dystrophia musculorum progressiva mit einer Sippenstammtafel aus dem Emmental (Schweiz.). Deutsch Med Wchnschr 1950; 75: 1221-5.
    • (1950) Deutsch Med Wchnschr , vol.75 , pp. 1221-1225
    • Pfändler, U.1
  • 50
    • 0028905205 scopus 로고
    • A novel mechanism leading to muscular dystrophy: Mutations in calpain 3 cause limb-girdle muscular dystrophy type 2A
    • Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, et al. A novel mechanism leading to muscular dystrophy: mutations in calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995; 81: 27-40.
    • (1995) Cell , vol.81 , pp. 27-40
    • Richard, I.1    Broux, O.2    Allamand, V.3    Fougerousse, F.4    Chiannilkulchai, N.5    Bourg, N.6
  • 51
    • 0028146869 scopus 로고
    • Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
    • Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994; 78: 625-33.
    • (1994) Cell , vol.78 , pp. 625-633
    • Roberds, S.L.1    Leturcq, F.2    Allamand, V.3    Piccolo, F.4    Jeanpierre, M.5    Anderson, R.D.6
  • 52
    • 0028012859 scopus 로고
    • Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency
    • Romero NB, Tomé FMS, Leturcq F, el Kerch F, Azibi K, Bachner L, et al. Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency. C R Acad Sci III. Sciences de la vie/Life Sciences 1994; 317: 70-6.
    • (1994) C R Acad Sci III. Sciences De La Vie/Life Sciences , 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
  • 54
    • 0017259056 scopus 로고
    • Autosomal recessive muscular dystrophy in Manitoba Hutterites
    • Shokeir MH, Kobrinsky NL. Autosomal recessive muscular dystrophy in Manitoba Hutterites. Clin Genet 1976; 9: 197-202.
    • (1976) Clin Genet , vol.9 , pp. 197-202
    • Shokeir, M.H.1    Kobrinsky, N.L.2
  • 55
    • 0022387681 scopus 로고
    • Muscular dystrophy in Saskatchewan Hutterites
    • Shokeir MHK, Rozdilsky B. Muscular dystrophy in Saskatchewan Hutterites. Am J Hum Genet 1985; 22: 487-93.
    • (1985) Am J Hum Genet , vol.22 , pp. 487-493
    • Shokeir, M.H.K.1    Rozdilsky, B.2
  • 56
    • 0022256008 scopus 로고
    • Duchenne-like muscular dystrophy in two sisters with normal karyotypes: Evidence for autosomal recessive inheritance
    • Somer H, Voutilainen A, Knuutila S, Kaitila I, Rapola J, Leinonen H. Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance. Clin Genet 1985; 28: 151-6.
    • (1985) Clin Genet , vol.28 , pp. 151-156
    • Somer, H.1    Voutilainen, A.2    Knuutila, S.3    Kaitila, I.4    Rapola, J.5    Leinonen, H.6
  • 57
    • 0026690760 scopus 로고
    • Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q
    • Speer MC, Yamaoka LH, Gilchrist JH, Gaskell CP, Stajich JM, Vance JM, et al. Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. Am J Hum Genet 1992; 50: 1211-17.
    • (1992) Am J Hum Genet , vol.50 , pp. 1211-1217
    • Speer, M.C.1    Yamaoka, L.H.2    Gilchrist, J.H.3    Gaskell, C.P.4    Stajich, J.M.5    Vance, J.M.6
  • 58
    • 0002531610 scopus 로고
    • Muscular dystrophy in Northern Ireland. I. An account of the condition in fifty-one families
    • Stevenson AC. Muscular dystrophy in Northern Ireland. I. An account of the condition in fifty-one families. Ann Eugenics 1953; 18: 50-93.
    • (1953) Ann Eugenics , vol.18 , pp. 50-93
    • Stevenson, A.C.1
  • 59
    • 0011379233 scopus 로고
    • Muscular dystrophy m Northern Ireland. II. An account of nine additional families
    • Stevenson AC. Muscular dystrophy m Northern Ireland. II. An account of nine additional families. Ann Human Genet 1955; 19: 159-64.
    • (1955) Ann Human Genet , vol.19 , pp. 159-164
    • Stevenson, A.C.1
  • 60
    • 0003053877 scopus 로고
    • Studies in disorders of muscle I. The problem of progressive muscular dystrophy
    • Tyler F, Wintrobe MM. Studies in disorders of muscle I. The problem of progressive muscular dystrophy. Ann Int Med 1950; 32: 72-9.
    • (1950) Ann Int Med , vol.32 , pp. 72-79
    • Tyler, F.1    Wintrobe, M.M.2
  • 61
    • 0000042975 scopus 로고
    • On the classification, natural history and treatment of the myopathies
    • Walton JN, Nattrass FJ. On the classification, natural history and treatment of the myopathies. Brain 1954; 77: 169-231.
    • (1954) Brain , vol.77 , pp. 169-231
    • Walton, J.N.1    Nattrass, F.J.2
  • 62
    • 0026697815 scopus 로고
    • Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15
    • Young K, Foroud T, Williams P, Jackson CE, Beckmann JS, Cohen D, et al. Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15. Genomics 1992; 13: 1370-1.
    • (1992) Genomics , vol.13 , pp. 1370-1371
    • Young, K.1    Foroud, T.2    Williams, P.3    Jackson, C.E.4    Beckmann, J.S.5    Cohen, D.6
  • 63
    • 0024307961 scopus 로고
    • Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance
    • Zatz M, Passos-Bueno MR, Rapaport D. Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance. Am J Med Genet 1989; 32: 407-10.
    • (1989) Am J Med Genet , 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.