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Volumn 99, Issue 6, 2004, Pages 326-329

Dysferlinopathy as an extrahepatic cause for the elevation of serum transaminases;Dysferlinopathie als extrahepatische ursache von transaminasenerhö hungen

Author keywords

Distal myopathies; Dysferlinopathy; Transaminases

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; AZATHIOPRINE; CREATINE KINASE; METHOTREXATE; PREDNISONE;

EID: 3042623548     PISSN: 07235003     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00063-004-1046-1     Document Type: Article
Times cited : (10)

References (21)
  • 1
    • 0032955751 scopus 로고    scopus 로고
    • Dysferlin is a plasma membrane protein and is expressed early in human development
    • Anderson LV, Davison K, Moss JA, et al. Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet 1999;8:855-61.
    • (1999) Hum Mol Genet , vol.8 , pp. 855-861
    • Anderson, L.V.1    Davison, K.2    Moss, J.A.3
  • 2
    • 0037738510 scopus 로고    scopus 로고
    • Defective membrane repair in dysferlin-deficient muscular dystrophy
    • Banasal D, Miyake K, Vogel SS, et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 2003;423:168-72.
    • (2003) Nature , vol.423 , pp. 168-172
    • Banasal, D.1    Miyake, K.2    Vogel, S.S.3
  • 4
    • 17344363640 scopus 로고    scopus 로고
    • A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
    • Bashir R, Britton S, Strachan T, et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998;20:37-42.
    • (1998) Nat Genet , vol.20 , pp. 37-42
    • Bashir, R.1    Britton, S.2    Strachan, T.3
  • 5
    • 0032850960 scopus 로고    scopus 로고
    • Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B
    • Bittner RE, Anderson LV, Burkhardt E, et al. Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. Nat Genet 1999;23:141-2.
    • (1999) Nat Genet , vol.23 , pp. 141-142
    • Bittner, R.E.1    Anderson, L.V.2    Burkhardt, E.3
  • 6
    • 0042427273 scopus 로고    scopus 로고
    • Repairing the tears: Dysferlin in muscle membrane repair
    • Doherty KR, McNally EM. Repairing the tears: dysferlin in muscle membrane repair. Trends Mol Med 2003;9:327-30.
    • (2003) Trends Mol Med , vol.9 , pp. 327-330
    • Doherty, K.R.1    McNally, E.M.2
  • 7
    • 0025998134 scopus 로고
    • Population frequencies of inherited neuromuscular diseases - A world survey
    • Emery AEH. Population frequencies of inherited neuromuscular diseases - a world survey. Neuromuscul Disord 1991;1:19-29.
    • (1991) Neuromuscul Disord , vol.1 , pp. 19-29
    • Emery, A.E.H.1
  • 9
    • 0035853009 scopus 로고    scopus 로고
    • Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy
    • Fanin M, Pegoraro E, Matsuda-Asada C, et al. Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy. Neurology 2001;56:660-5.
    • (2001) Neurology , vol.56 , pp. 660-665
    • Fanin, M.1    Pegoraro, E.2    Matsuda-Asada, C.3
  • 10
    • 0034026420 scopus 로고    scopus 로고
    • Distal myopathies
    • Illa I. Distal myopathies. J Neurol 2000;247:169-74.
    • (2000) J Neurol , vol.247 , pp. 169-174
    • Illa, I.1
  • 11
    • 0035109410 scopus 로고    scopus 로고
    • Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype
    • Illa I, Serrano-Munuera C, Gallardo E, et al. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 2001;49:130-4.
    • (2001) Ann Neurol , vol.49 , pp. 130-134
    • Illa, I.1    Serrano-Munuera, C.2    Gallardo, E.3
  • 12
    • 0347379869 scopus 로고    scopus 로고
    • Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing
    • Lennon NJ, Kho A, Bacskai BJ, et al. Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem 2003;278:50466-73.
    • (2003) J Biol Chem , vol.278 , pp. 50466-50473
    • Lennon, N.J.1    Kho, A.2    Bacskai, B.J.3
  • 13
    • 17344365600 scopus 로고    scopus 로고
    • Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
    • Liu J, Aoki M, Illa I, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998;20:31-6.
    • (1998) Nat Genet , vol.20 , pp. 31-36
    • Liu, J.1    Aoki, M.2    Illa, I.3
  • 14
    • 0035144864 scopus 로고    scopus 로고
    • Dysferlinopathy (LGMD2B): A 23 year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutation
    • Mahjnek I, Marconi G, Bushby K, et al. Dysferlinopathy (LGMD2B): a 23 year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutation. Neuromuscul Disord 2001;11:20-6.
    • (2001) Neuromuscul Disord , vol.11 , pp. 20-26
    • Mahjnek, I.1    Marconi, G.2    Bushby, K.3
  • 15
    • 22844456038 scopus 로고    scopus 로고
    • Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy
    • Matsumara T, Aoki M, Nagano A, et al. Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy. Proc Jpn Acad 1999;75:207-12.
    • (1999) Proc Jpn Acad , vol.75 , pp. 207-212
    • Matsumara, T.1    Aoki, M.2    Nagano, A.3
  • 16
    • 0035864832 scopus 로고    scopus 로고
    • Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene
    • Nakagawa M, Matsuzaki T, Suehara M, et al. Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene. J Neurol Sci 2001;184:15-9.
    • (2001) J Neurol Sci , vol.184 , pp. 15-19
    • Nakagawa, M.1    Matsuzaki, T.2    Suehara, M.3
  • 17
    • 0346216799 scopus 로고    scopus 로고
    • Molecular bases of autosomal recessive limb-girdle muscular dystrophies
    • Nigro V. Molecular bases of autosomal recessive limb-girdle muscular dystrophies. Acta Myol 2003;22:35-42.
    • (2003) Acta Myol , vol.22 , pp. 35-42
    • Nigro, V.1
  • 18
    • 0033673056 scopus 로고    scopus 로고
    • Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies
    • Piccolo F, Moore SA, Ford GC, et al. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies. Ann Neurol 2000;48:902-12.
    • (2000) Ann Neurol , vol.48 , pp. 902-912
    • Piccolo, F.1    Moore, S.A.2    Ford, G.C.3
  • 19
    • 0035002174 scopus 로고    scopus 로고
    • Potential for creatine and other therapies targeting cellular energy dysfunction in neurological disorders
    • Tarnopolsky MA, Beal MF. Potential for creatine and other therapies targeting cellular energy dysfunction in neurological disorders. Ann Neurol 2001;49:561-74.
    • (2001) Ann Neurol , vol.49 , pp. 561-574
    • Tarnopolsky, M.A.1    Beal, M.F.2
  • 21
    • 0032897762 scopus 로고    scopus 로고
    • Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)
    • Weiler T, Bashir R, Anderson LV, et al. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Mol Genet 1999;8:871-7.
    • (1999) Hum Mol Genet , vol.8 , pp. 871-877
    • Weiler, T.1    Bashir, R.2    Anderson, L.V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.