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Volumn 61, Issue 1, 1997, Pages 151-159

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

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Indexed keywords

CREATINE KINASE;

EID: 0030765309     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/513889     Document Type: Article
Times cited : (119)

References (55)
  • 1
    • 0027375539 scopus 로고
    • Two forms of mouse syntrophin, a 58 kDa dystrophin-associated protein, differ in primary structure and tissue distribution
    • Adams ME, Butler MH, Dwyer TM, Peters MF, Murnane AA, Frochner SC (1993) Two forms of mouse syntrophin, a 58 kDa dystrophin-associated protein, differ in primary structure and tissue distribution. Neuron 11:531-540
    • (1993) Neuron , vol.11 , pp. 531-540
    • Adams, M.E.1    Butler, M.H.2    Dwyer, T.M.3    Peters, M.F.4    Murnane, A.A.5    Frochner, S.C.6
  • 3
    • 0021320516 scopus 로고
    • "Rimmed vacuole myopathy" sparing the quadriceps, a unique disorder in Iranian Jews
    • Argov Z, Yarom R (1984) "Rimmed vacuole myopathy" sparing the quadriceps, a unique disorder in Iranian Jews. J Neurol Sci 64:33-43
    • (1984) J Neurol Sci , vol.64 , pp. 33-43
    • Argov, Z.1    Yarom, R.2
  • 4
    • 0011802494 scopus 로고
    • Delineating the mutations in spinal muscular atrophy: Improved molecular detection and genotype-phenotype correlations
    • Aubry HL, MacKenzie AE, Surh LC (1995) Delineating the mutations in spinal muscular atrophy: improved molecular detection and genotype-phenotype correlations. Am J Hum Genet Suppl 57:A234
    • (1995) Am J Hum Genet Suppl , vol.57
    • Aubry, H.L.1    MacKenzie, A.E.2    Surh, L.C.3
  • 7
    • 0028951204 scopus 로고
    • Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14
    • Bejaoui K, Hirabayashi K, Hentati F, Haines JL, Ben Hamida C, Belal S, Miller RG, et al (1995) Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology 45:768-772
    • (1995) Neurology , vol.45 , pp. 768-772
    • Bejaoui, K.1    Hirabayashi, K.2    Hentati, F.3    Haines, J.L.4    Ben Hamida, C.5    Belal, S.6    Miller, R.G.7
  • 8
    • 0028971219 scopus 로고
    • β-Sarcoglycan (A3b) mutations cause autosomal recessive limb-girdle muscular dystrophy with loss of the sarcoglycan complex
    • Bönnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, et al (1995) β-Sarcoglycan (A3b) mutations cause autosomal recessive limb-girdle muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 11:266-273
    • (1995) Nat Genet , vol.11 , pp. 266-273
    • Bönnemann, C.G.1    Modi, R.2    Noguchi, S.3    Mizuno, Y.4    Yoshida, M.5    Gussoni, E.6    McNally, E.M.7
  • 9
    • 10544252688 scopus 로고    scopus 로고
    • Genomic screening for β-sarcoglycan gene mutations: Missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD2E)
    • Bönnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, Moreira ES, Marie SK, Pavanello RCM, et al (1996) Genomic screening for β-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD2E). Hum Mol Genet 5:1953-1961
    • (1996) Hum Mol Genet , vol.5 , pp. 1953-1961
    • Bönnemann, C.G.1    Passos-Bueno, M.R.2    McNally, E.M.3    Vainzof, M.4    Moreira, E.S.5    Marie, S.K.6    Pavanello, R.C.M.7
  • 10
    • 0029334512 scopus 로고
    • Report of the 30th and 31st ENMC International Workshop: The limb-girdle muscular dystrophies and proposal for a new nomenclature
    • Bushby K, Beckmann J (1995) Report of the 30th and 31st ENMC International Workshop: the limb-girdle muscular dystrophies and proposal for a new nomenclature. Neuromuscul Disord 5:337-343
    • (1995) Neuromuscul Disord , vol.5 , pp. 337-343
    • Bushby, K.1    Beckmann, J.2
  • 11
    • 0028914964 scopus 로고
    • Three muscular dystrophies: Loss of citoskeleton-extracellular matrix linkage
    • Campbell KP (1995) Three muscular dystrophies: loss of citoskeleton-extracellular matrix linkage. Cell 80:675-679
    • (1995) Cell , vol.80 , pp. 675-679
    • Campbell, K.P.1
  • 12
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Fauré, S.2    Fizames, C.3    Samson, D.4    Drouot, N.5    Vignal, A.6    Millasseau, P.7
  • 18
    • 0028971221 scopus 로고
    • β-Sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
    • Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, et al (1995) β-Sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 11:257-265
    • (1995) Nat Genet , vol.11 , pp. 257-265
    • Lim, L.E.1    Duclos, F.2    Broux, O.3    Bourg, N.4    Sunada, Y.5    Allamand, V.6    Meyer, J.7
  • 19
    • 0013644923 scopus 로고
    • Distal myopathies
    • Engel AG, Banker BQ (eds) McGraw-Hill, New York
    • Markesbery WR, Criggs RC (1986) Distal myopathies. In: Engel AG, Banker BQ (eds) Myology. McGraw-Hill, New York, pp 1313-1326
    • (1986) Myology , pp. 1313-1326
    • Markesbery, W.R.1    Criggs, R.C.2
  • 21
  • 22
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 24
    • 0022634885 scopus 로고
    • Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy: Seventeen cases in eight families including an autopsied case
    • Miyoshi K, Kawai H, Iwasa M, Kusaka K, Nishino H (1986) Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy: seventeen cases in eight families including an autopsied case. Brain 109:31-54
    • (1986) Brain , vol.109 , pp. 31-54
    • Miyoshi, K.1    Kawai, H.2    Iwasa, M.3    Kusaka, K.4    Nishino, H.5
  • 25
    • 0028873315 scopus 로고
    • Muscle fiber degeneration in distal myopathy with rimmed vacuole formation
    • Murakami N, Ihara Y, Nonaka I (1995) Muscle fiber degeneration in distal myopathy with rimmed vacuole formation. Acta Neuropathol 89:29-34
    • (1995) Acta Neuropathol , vol.89 , pp. 29-34
    • Murakami, N.1    Ihara, Y.2    Nonaka, I.3
  • 26
    • 0029816797 scopus 로고    scopus 로고
    • The 5q autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene
    • Nigro V, Moreira ES, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, et al (1996a) The 5q autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene. Nat Genet 14:195-198
    • (1996) Nat Genet , vol.14 , pp. 195-198
    • Nigro, V.1    Moreira, E.S.2    Piluso, G.3    Vainzof, M.4    Belsito, A.5    Politano, L.6    Puca, A.A.7
  • 27
    • 10144247267 scopus 로고    scopus 로고
    • Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein
    • Nigro V, Piluso G, Belsito A, Politano Z, Puca AA, Papparella S, Rossi G, et al (1996b) Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet 5:1179-1186
    • (1996) Hum Mol Genet , vol.5 , pp. 1179-1186
    • Nigro, V.1    Piluso, G.2    Belsito, A.3    Politano, Z.4    Puca, A.A.5    Papparella, S.6    Rossi, G.7
  • 28
    • 0028883973 scopus 로고
    • Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
    • Noguchi S, McNally EM, Othmane KB, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, et al (1995) Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 270:819-822
    • (1995) Science , vol.270 , pp. 819-822
    • Noguchi, S.1    McNally, E.M.2    Othmane, K.B.3    Hagiwara, Y.4    Mizuno, Y.5    Yoshida, M.6    Yamamoto, H.7
  • 29
    • 0019481203 scopus 로고
    • Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
    • Nonaka I, Sunohara N, Ishiura S, Satoyoshi E (1981) Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 51:141-155
    • (1981) J Neurol Sci , vol.51 , pp. 141-155
    • Nonaka, I.1    Sunohara, N.2    Ishiura, S.3    Satoyoshi, E.4
  • 30
    • 85030293825 scopus 로고    scopus 로고
    • Online Mendelian inheritance in man (OMIM) home page
    • Online Mendelian inheritance in man (OMIM) home page (1996) http://www3.ncbi.nlm.nih.gov/omim/
    • (1996)
  • 31
    • 0027032694 scopus 로고
    • Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q
    • Othmane KB, Ben Hamida M, Pericak-Vance MA, Ben Hamida C, Blel S, Carter SC (1992) Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet 2:316-317
    • (1992) Nat Genet , vol.2 , pp. 316-317
    • Othmane, K.B.1    Ben Hamida, M.2    Pericak-Vance, M.A.3    Ben Hamida, C.4    Blel, S.5    Carter, S.C.6
  • 33
    • 0029057637 scopus 로고
    • Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy (LGMD2B) in three families allows refinement of the candidate region
    • Passos-Bueno MR, Bashir R, Moreira ES, Vasquez L, Marie SK, Vainzof M, Iughetti P, et al (1995a) Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy (LGMD2B) in three families allows refinement of the candidate region. Genomics 27:192-195
    • (1995) Genomics , vol.27 , pp. 192-195
    • Passos-Bueno, M.R.1    Bashir, R.2    Moreira, E.S.3    Vasquez, L.4    Marie, S.K.5    Vainzof, M.6    Iughetti, P.7
  • 34
    • 19144370503 scopus 로고    scopus 로고
    • Main clinical features for the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families
    • Passos-Bueno MR, Moreira ES, Marie SK, Bashir R, Vasquez L, Love DR, Vainzof M, et al (1996a) Main clinical features for the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families. J Med Genet 33:97-102
    • (1996) J Med Genet , vol.33 , pp. 97-102
    • Passos-Bueno, M.R.1    Moreira, E.S.2    Marie, S.K.3    Bashir, R.4    Vasquez, L.5    Love, D.R.6    Vainzof, M.7
  • 35
    • 0029047106 scopus 로고
    • A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
    • Passos-Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SK, Pereira L, Akiyama J, et al (1995b) A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. Hum Mol Genet 4:1163-1167
    • (1995) Hum Mol Genet , vol.4 , pp. 1163-1167
    • Passos-Bueno, M.R.1    Moreira, E.S.2    Vainzof, M.3    Chamberlain, J.4    Marie, S.K.5    Pereira, L.6    Akiyama, J.7
  • 36
    • 0030008373 scopus 로고    scopus 로고
    • Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD
    • Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M (1996b) Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet 5:815-820
    • (1996) Hum Mol Genet , vol.5 , pp. 815-820
    • Passos-Bueno, M.R.1    Moreira, E.S.2    Vainzof, M.3    Marie, S.K.4    Zatz, M.5
  • 37
    • 0027935193 scopus 로고
    • β2-syntrophin: Localization at the neuromuscular junction in skeletal muscle
    • Peter MF, Kramarcy NR, Sealock R, Frochner SC (1994) β2-syntrophin: localization at the neuromuscular junction in skeletal muscle. Neuroreport 5:1577-1580
    • (1994) Neuroreport , vol.5 , pp. 1577-1580
    • Peter, M.F.1    Kramarcy, N.R.2    Sealock, R.3    Frochner, S.C.4
  • 38
    • 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, Brenguier L, et al (1995) A novel mechanism leading to muscular dystrophy: mutations in calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 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    Brenguier, L.7
  • 39
    • 0027361264 scopus 로고
    • Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin)
    • Roberds SL, Anderson RD, Ibraghimov-Beskrovnaya O, Campbell KP (1993) Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). J Biol Chem 268:23739-23742
    • (1993) J Biol Chem , vol.268 , pp. 23739-23742
    • Roberds, S.L.1    Anderson, R.D.2    Ibraghimov-Beskrovnaya, O.3    Campbell, K.P.4
  • 41
    • 0028905919 scopus 로고    scopus 로고
    • Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
    • Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE (1996) Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 4:631-634
    • (1996) Hum Mol Genet , vol.4 , pp. 631-634
    • Rodrigues, N.R.1    Owen, N.2    Talbot, K.3    Ignatius, J.4    Dubowitz, V.5    Davies, K.E.6
  • 42
    • 0029937712 scopus 로고    scopus 로고
    • Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane
    • Sadoulet-Puccio HM, Khurana TS, Cohen JB, Kunkel LM (1996) Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane. Hum Mol Genet 4:489-496
    • (1996) Hum Mol Genet , vol.4 , pp. 489-496
    • Sadoulet-Puccio, H.M.1    Khurana, T.S.2    Cohen, J.B.3    Kunkel, L.M.4
  • 43
    • 0024537024 scopus 로고
    • Distal myopathy with rimmed vacuole formation: A follow-up study
    • Sunohara N, Nonaka I, Kamei N, Satoyoshi E (1989) Distal myopathy with rimmed vacuole formation: a follow-up study. Brain 112:65-83
    • (1989) Brain , vol.112 , pp. 65-83
    • Sunohara, N.1    Nonaka, I.2    Kamei, N.3    Satoyoshi, E.4
  • 45
    • 0026777275 scopus 로고
    • Limb-girdle type muscular dystrophy in a large family with distal myopathy: Homozygous manifestation of a dominant gene?
    • Udd B (1992) Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene? J Med Genet 29:383-389
    • (1992) J Med Genet , vol.29 , pp. 383-389
    • Udd, B.1
  • 46
    • 0026005315 scopus 로고
    • Muscular dystrophy with separate clinical phenotypes in a large family
    • Udd B, Kääriänen H, Somer H (1991) Muscular dystrophy with separate clinical phenotypes in a large family. Muscle Nerve 14:1050-1058
    • (1991) Muscle Nerve , vol.14 , pp. 1050-1058
    • Udd, B.1    Kääriänen, H.2    Somer, H.3
  • 48
    • 15844362402 scopus 로고
    • Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein
    • Vainzof M, Zubrzycka-Gaarn EE, Rapaport D, Passos-Bueno MR, Pavanello RCM, Pavanello I, Zatz M (1991) Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein. J Neurol Sci 94:137-146
    • (1991) J Neurol Sci , vol.94 , pp. 137-146
    • Vainzof, M.1    Zubrzycka-Gaarn, E.E.2    Rapaport, D.3    Passos-Bueno, M.R.4    Pavanello, R.C.M.5    Pavanello, I.6    Zatz, M.7
  • 51
    • 0029845713 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype
    • Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, Wrogemann K (1996) Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet 59:872-878
    • (1996) Am J Hum Genet , vol.59 , pp. 872-878
    • Weiler, T.1    Greenberg, C.R.2    Nylen, E.3    Halliday, W.4    Morgan, K.5    Eggertson, D.6    Wrogemann, K.7
  • 52
    • 0028877455 scopus 로고
    • Muscular dystrophies: Diseases of the dystrophin-glycoprotein complex
    • Worton R (1995) Muscular dystrophies: diseases of the dystrophin-glycoprotein complex. Science 270:755-756
    • (1995) Science , vol.270 , pp. 755-756
    • Worton, R.1
  • 53
    • 0028017312 scopus 로고
    • Autosomal recessive distal muscular dystrophy: Normal expression of dystrophin, utrophin and dystrophin-associated proteins in muscle fibers
    • Yamanouchi Y, Ozawa E, Nonaka I (1994) Autosomal recessive distal muscular dystrophy: normal expression of dystrophin, utrophin and dystrophin-associated proteins in muscle fibers. J Neurol Sci 126:70-76
    • (1994) J Neurol Sci , vol.126 , pp. 70-76
    • Yamanouchi, Y.1    Ozawa, E.2    Nonaka, I.3
  • 54
    • 0027998866 scopus 로고
    • Heterogeneity of the 59-kDa dystrophin-associated protein revealed by cDNA cloning and expression
    • Yang B, Ibraghimov-Beskrovnaya O, Moomaw CR, Slaughter CA, Campbell KP (1994) Heterogeneity of the 59-kDa dystrophin-associated protein revealed by cDNA cloning and expression. J Biol Chem 269:6040-6044
    • (1994) J Biol Chem , vol.269 , pp. 6040-6044
    • Yang, B.1    Ibraghimov-Beskrovnaya, O.2    Moomaw, C.R.3    Slaughter, C.A.4    Campbell, K.P.5
  • 55
    • 0028302369 scopus 로고
    • Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyul B-D-glucoside
    • Yoshida M, Suzuki A, Yamamoto H, Noguchi S, Mizuno Y, Ozawa E (1994) Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyul B-D-glucoside. Eur J Biochem 222:1055-1061
    • (1994) Eur J Biochem , vol.222 , pp. 1055-1061
    • Yoshida, M.1    Suzuki, A.2    Yamamoto, H.3    Noguchi, S.4    Mizuno, Y.5    Ozawa, E.6


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