메뉴 건너뛰기




Volumn 336, Issue 9, 1997, Pages 618-624

Mutations in the sarcoglycan genes in patients with myopathy

(22)  Duggan, David J a   Gorospe, J Rafael a   Fanin, Marina b   Hoffman, Eric P a,c   Angelini, Corrado b   Pegoraro, E a   Noguchi, S d   Ozawa, E d   Pendlebury, W e   Waclawik, A J f   Duenas, D A g   Hausmanowa Petrusewicz, I h   Fidzianska, A h   Bean, S C i   Haller, J S j   Bodensteiner, J k   Greco, C M l   Pestronk, A m   Berardinelli, A n   Gelinas, D F l   more..


Author keywords

[No Author keywords available]

Indexed keywords

DNA; DYSTROPHIN; MESSENGER RNA; SARCOGLYCAN; UTROPHIN;

EID: 0031042885     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199702273360904     Document Type: Article
Times cited : (202)

References (32)
  • 2
    • 0028877455 scopus 로고
    • Muscular dystrophies: Diseases of the dystrophin-glycoprotein complex
    • Worton R. Muscular dystrophies: diseases of the dystrophin-glycoprotein complex. Science 1995;270:755-6.
    • (1995) Science , vol.270 , pp. 755-756
    • Worton, R.1
  • 4
    • 0023906647 scopus 로고
    • Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy
    • Hoffman EP, Fischbeck KH, Brown RH, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 1988;318:1363-8.
    • (1988) N Engl J Med , vol.318 , pp. 1363-1368
    • Hoffman, E.P.1    Fischbeck, K.H.2    Brown, R.H.3
  • 6
    • 0028302369 scopus 로고
    • Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl β-D-glucoside
    • Yoshida M, Suzuki A, Yamamoto H, Noguchi S, Mizuno Y, Ozawa E. Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl β-D-glucoside. Eur J Biochem 1994;222:1055-61.
    • (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
  • 7
    • 0028146869 scopus 로고
    • Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
    • Roberds SL, Leturcq F, Allamand V, 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
  • 8
    • 0028883973 scopus 로고
    • Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
    • Noguchi S, McNally EM, Ben Othmane K, et al. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995;270:819-22.
    • (1995) Science , vol.270 , pp. 819-822
    • Noguchi, S.1    McNally, E.M.2    Ben Othmane, K.3
  • 9
    • 0028971219 scopus 로고
    • β-Sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
    • Bönnemann CG, Modi R, Noguchi S, et al. β-Sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 1995;11:266-73.
    • (1995) Nat Genet , vol.11 , pp. 266-273
    • Bönnemann, C.G.1    Modi, R.2    Noguchi, S.3
  • 10
    • 0028971221 scopus 로고
    • β-Sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
    • Lim LE, Duclos F, Broux O, et al. β-Sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1995;11:257-65.
    • (1995) Nat Genet , vol.11 , pp. 257-265
    • Lim, L.E.1    Duclos, F.2    Broux, O.3
  • 11
    • 0029319426 scopus 로고
    • Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity
    • Piccolo F, Roberds SL, Jeanpierre M, et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet 1995;10:243-5.
    • (1995) Nat Genet , vol.10 , pp. 243-245
    • Piccolo, F.1    Roberds, S.L.2    Jeanpierre, M.3
  • 12
    • 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, et al. 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 1995;4:1163-7.
    • (1995) Hum Mol Genet , vol.4 , pp. 1163-1167
    • Passos Bueno, M.R.1    Moreira, E.S.2    Vainzof, M.3
  • 13
    • 0029094331 scopus 로고
    • Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency
    • Kawai H, Akaike M, Endo T, et al. Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. J Clin Invest 1995;96:1202-7.
    • (1995) J Clin Invest , vol.96 , pp. 1202-1207
    • Kawai, H.1    Akaike, M.2    Endo, T.3
  • 14
    • 0029164775 scopus 로고
    • Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin
    • Ljunggren A, Duggan DJ, McNally E, et al. Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol 1995;38:367-72.
    • (1995) Ann Neurol , vol.38 , pp. 367-372
    • Ljunggren, A.1    Duggan, D.J.2    McNally, E.3
  • 15
    • 0030248268 scopus 로고    scopus 로고
    • α-Sarcoglycan (adhalin) deficiency: Complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations
    • Duggan DJ, Fanin M, Pegoraro E, Angelini C, Hoffman EP. α-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations. J Neurol Sci 1996;140:30-9.
    • (1996) J Neurol Sci , vol.140 , pp. 30-39
    • Duggan, D.J.1    Fanin, M.2    Pegoraro, E.3    Angelini, C.4    Hoffman, E.P.5
  • 16
    • 0011371688 scopus 로고    scopus 로고
    • A severe case of Duchenne-like muscular dystrophy due to a mutation in the α-sarcoglycan (adhalin) gene
    • Fanin M, Martinello F, Duggan DJ, et al. A severe case of Duchenne-like muscular dystrophy due to a mutation in the α-sarcoglycan (adhalin) gene. Basic Appl Myol 1996;6:95-100.
    • (1996) Basic Appl Myol , vol.6 , pp. 95-100
    • Fanin, M.1    Martinello, F.2    Duggan, D.J.3
  • 17
    • 10344249872 scopus 로고    scopus 로고
    • Mutations that disrupt the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy
    • McNally EM, Duggan D, Gorospe JR, et al. Mutations that disrupt the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy. Hum Mol Genet 1996;5:1841-7.
    • (1996) Hum Mol Genet , vol.5 , pp. 1841-1847
    • McNally, E.M.1    Duggan, D.2    Gorospe, J.R.3
  • 18
    • 19244363787 scopus 로고    scopus 로고
    • Mild and severe muscular dystrophy caused by a single γ-sarcoglycan gene mutation
    • McNally EM, Passos-Bueno MR, Bönnemann CG, et al. Mild and severe muscular dystrophy caused by a single γ-sarcoglycan gene mutation. Am J Hum Genet 1996;59:1040-7.
    • (1996) Am J Hum Genet , vol.59 , pp. 1040-1047
    • McNally, E.M.1    Passos-Bueno, M.R.2    Bönnemann, C.G.3
  • 19
    • 10544252688 scopus 로고    scopus 로고
    • Genomic screening for β-sarcoglycan gene mutations: Missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)
    • Bönnemann CG, Passos-Bueno MR, McNally EM, et al. Genomic screening for β-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum Mol Genet 1996;5:1953-61.
    • (1996) Hum Mol Genet , vol.5 , pp. 1953-1961
    • Bönnemann, C.G.1    Passos-Bueno, M.R.2    McNally, E.M.3
  • 20
    • 0029816797 scopus 로고    scopus 로고
    • Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
    • Nigro V, Moreira ES, Piluso G, et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet 1996;13:195-8.
    • (1996) Nat Genet , vol.13 , pp. 195-198
    • Nigro, V.1    Moreira, E.S.2    Piluso, G.3
  • 21
    • 0027740241 scopus 로고
    • Distribution of dystrophin isoforms and dystrophin-associated proteins 43DAG (A3a) and 50DAG (A2) in various monkey tissues
    • Mizuno Y, Yoshida M, Yamamoto H, Hirai S, Ozawa E. Distribution of dystrophin isoforms and dystrophin-associated proteins 43DAG (A3a) and 50DAG (A2) in various monkey tissues. J Biochem 1993;114:936-41.
    • (1993) J Biochem , vol.114 , pp. 936-941
    • Mizuno, Y.1    Yoshida, M.2    Yamamoto, H.3    Hirai, S.4    Ozawa, E.5
  • 22
    • 0028153581 scopus 로고
    • Expression of dystrophin-associated protein 35DAG (A4) and 50DAG (A2) is confined to striated muscles
    • Yamamoto H, Mizuno Y, Hayashi K, Nonaka I, Yoshida M, Ozawa E. Expression of dystrophin-associated protein 35DAG (A4) and 50DAG (A2) is confined to striated muscles. J Biochem 1994;115:162-7.
    • (1994) J Biochem , vol.115 , pp. 162-167
    • Yamamoto, H.1    Mizuno, Y.2    Hayashi, K.3    Nonaka, I.4    Yoshida, M.5    Ozawa, E.6
  • 25
    • 13344285342 scopus 로고    scopus 로고
    • The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives
    • Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM. The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. J Biol Chem 1996;271:2724-30.
    • (1996) J Biol Chem , vol.271 , pp. 2724-2730
    • Ahn, A.H.1    Freener, C.A.2    Gussoni, E.3    Yoshida, M.4    Ozawa, E.5    Kunkel, L.M.6
  • 26
    • 0027932422 scopus 로고
    • Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle
    • Mizuno Y, Noguchi S, Yamamoto H, et al. Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle. Biochem Biophys Res Commun 1994;203:979-83.
    • (1994) Biochem Biophys Res Commun , vol.203 , pp. 979-983
    • Mizuno, Y.1    Noguchi, S.2    Yamamoto, H.3
  • 27
    • 0027481238 scopus 로고
    • Duchenne muscular dystrophy: Deficiency of dystrophin-associated proteins in the sarcolemma
    • Ohlendieck K, Matsumura K, Ionasescu VV, et al. Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma. Neurology 1993;43:795-800.
    • (1993) Neurology , vol.43 , pp. 795-800
    • Ohlendieck, K.1    Matsumura, K.2    Ionasescu, V.V.3
  • 28
    • 0028009624 scopus 로고
    • Expression of utrophin (dystrophin-related protein) and dystrophin-associated glycoproteins in muscles from patients with Duchenne muscular dystrophy
    • Mizuno Y, Yoshida M, Nonaka I, Hirai S, Ozawa E. Expression of utrophin (dystrophin-related protein) and dystrophin-associated glycoproteins in muscles from patients with Duchenne muscular dystrophy. Muscle Nerve 1994;17:206-16.
    • (1994) Muscle Nerve , vol.17 , pp. 206-216
    • Mizuno, Y.1    Yoshida, M.2    Nonaka, I.3    Hirai, S.4    Ozawa, E.5
  • 29
    • 0025813473 scopus 로고
    • Protocols for an improved detection of point mutations by SSCP
    • Spinardi L, Mazars R, Theillet C. Protocols for an improved detection of point mutations by SSCP. Nucleic Acids Res 1991;19:4009.
    • (1991) Nucleic Acids Res , vol.19 , pp. 4009
    • Spinardi, L.1    Mazars, R.2    Theillet, C.3
  • 30
    • 0000122778 scopus 로고
    • Amplification-refractory mutation system (ARMS) analysis of point mutations
    • Dracopoli NC, Haines JL, Korf BR, et al., eds. New York: John Wiley
    • Little S. Amplification-refractory mutation system (ARMS) analysis of point mutations. In: Dracopoli NC, Haines JL, Korf BR, et al., eds. Current protocols in human genetics. New York: John Wiley, 1994:9.8.1-9.8.5.
    • (1994) Current Protocols in Human Genetics , pp. 981-985
    • Little, S.1
  • 31
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 32
    • 0028904169 scopus 로고
    • Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: Evidence for failure of dystrophin production in dystrophin-competent myonuclei
    • Pegoraro E, Schimke RN, Garcia C, et al. Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei. Neurology 1995;45:677-90.
    • (1995) Neurology , vol.45 , pp. 677-690
    • Pegoraro, E.1    Schimke, R.N.2    Garcia, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.