메뉴 건너뛰기




Volumn 27, Issue 6, 1996, Pages 305-310

Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: New entity or variant of cobblestone lissencephaly syndrome?

Author keywords

Arthrogryposis; CNS malformation; Congenital muscular dystrophy

Indexed keywords

DYSTROPHIN; GLYCOPROTEIN; UTROPHIN;

EID: 0030459050     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973799     Document Type: Article
Times cited : (20)

References (45)
  • 1
    • 0026808880 scopus 로고
    • Serial MRI in Fukuyama type, congenital muscular dystrophy
    • Aihara, M., Y. Tanabe, K. Kato: Serial MRI in Fukuyama type, congenital muscular dystrophy. Neuroradiology 34 (1992) 396-398
    • (1992) Neuroradiology , vol.34 , pp. 396-398
    • Aihara, M.1    Tanabe, Y.2    Kato, K.3
  • 2
    • 0021086363 scopus 로고
    • The Pena-Shokeir snydrome: Report of five cases and further delineation of the syndrome
    • Chen, H., B. Blumberg, L. Immken, R. Lachman, D. Riglthnire, M. Fowler et al: The Pena-Shokeir snydrome: Report of five cases and further delineation of the syndrome. Am J. Med. Genet. 16 (1983) 213-214
    • (1983) Am J. Med. Genet. , vol.16 , pp. 213-214
    • Chen, H.1    Blumberg, B.2    Immken, L.3    Lachman, R.4    Riglthnire, D.5    Fowler, M.6
  • 5
    • 0021972775 scopus 로고
    • Syndromes with lissenrephaly. II. Walker-Warburg and cerebrooculo-muscular syndromes and a new syndrome with type II lissencephaly
    • Dobyns, W. B., J. B. Kirkpatrick, H. M. Hittner, R. M. Roberts, F. L. Kretzer: Syndromes with lissenrephaly. II. Walker-Warburg and cerebrooculo-muscular syndromes and a new syndrome with type II lissencephaly. Am. J Med Genet. 22 (1985) 157-195
    • (1985) Am. J Med Genet. , vol.22 , pp. 157-195
    • Dobyns, W.B.1    Kirkpatrick, J.B.2    Hittner, H.M.3    Roberts, R.M.4    Kretzer, F.L.5
  • 7
    • 0025298178 scopus 로고
    • Regarding Walker-Warburg syndrome and muscle-eye-brain disease
    • Dobyns, W. B., R. A. Pagon, C. J. R. Curry, F. Greenberg: Regarding Walker-Warburg syndrome and muscle-eye-brain disease (Letter to the editor, response to Santavuon et al). Am. J. Med. Genet 36 (1990) 373-374
    • (1990) Am. J. Med. Genet , vol.36 , pp. 373-374
    • Dobyns, W.B.1    Pagon, R.A.2    Curry, C.J.R.3    Greenberg, F.4
  • 9
    • 0027954337 scopus 로고
    • Workshop Report, 22nd ENMC Workshop on Congenital Muscular Dystrophy, Baarn, May 1993
    • Dubowitz, V.: Workshop Report, 22nd ENMC Workshop on Congenital Muscular Dystrophy, Baarn, May 1993. Neuromuse Disord. 4 (1994) 75-81
    • (1994) Neuromuse Disord. , vol.4 , pp. 75-81
    • Dubowitz, V.1
  • 10
  • 12
    • 0029060893 scopus 로고
    • Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy, The Netherlands, April 1994
    • Dubowitz, V., M. Fardeau: Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy, The Netherlands, April 1994 Neuromusc. Disord. 5 (1995) 253-258
    • (1995) Neuromusc. Disord. , vol.5 , pp. 253-258
    • Dubowitz, V.1    Fardeau, M.2
  • 13
    • 0025272250 scopus 로고
    • Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
    • Ervasti, J. M., K. Ohlendieck, S. D. Kahl, M. G. Gaver, K. P. Campbell: Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle Nature 345 (1990) 315-319
    • (1990) Nature , vol.345 , pp. 315-319
    • Ervasti, J.M.1    Ohlendieck, K.2    Kahl, S.D.3    Gaver, M.G.4    Campbell, K.P.5
  • 14
    • 0019471880 scopus 로고
    • Congenital progressive muscular dystrophy of the Fukuyama type - Clinical, genetic, and pathological consideration
    • Fukuyama, Y., M. Osawa, H. Suzuki: Congenital progressive muscular dystrophy of the Fukuyama type - Clinical, genetic, and pathological consideration. Brain Dev. 3 (1981) 1-29
    • (1981) Brain Dev. , vol.3 , pp. 1-29
    • Fukuyama, Y.1    Osawa, M.2    Suzuki, H.3
  • 16
    • 0016813740 scopus 로고
    • Congenital myotonic dystrophy in Britain. I. Clinical aspects
    • Harper, P. S.: Congenital myotonic dystrophy in Britain. I. Clinical aspects Arch Dis. Chlid 50 (1975) 505-513
    • (1975) Arch Dis. Chlid , vol.50 , pp. 505-513
    • Harper, P.S.1
  • 18
    • 0022297922 scopus 로고
    • Diagnostic advantage of needle muscle biopsy and ultrasound imaging in the detection of focal pathology in a girl with limb-girdle dystrophy
    • Heckmatt, J. Z., V. Dubowitz: Diagnostic advantage of needle muscle biopsy and ultrasound imaging in the detection of focal pathology in a girl with limb-girdle dystrophy. Muscle Nerve 8 (1985) 705-709
    • (1985) Muscle Nerve , vol.8 , pp. 705-709
    • Heckmatt, J.Z.1    Dubowitz, V.2
  • 20
    • 0018820987 scopus 로고
    • Contractures in a newborn infant of a mother with myasthenia gravis
    • Holmes, L. B., S. G. Driscoll, W. G. Bradley: Contractures in a newborn infant of a mother with myasthenia gravis. J. Pediatr. 96 (1980) 1067-1069
    • (1980) J. Pediatr. , vol.96 , pp. 1067-1069
    • Holmes, L.B.1    Driscoll, S.G.2    Bradley, W.G.3
  • 21
    • 0017123442 scopus 로고
    • Congenital muscular dystrophy as a disease of the central nervous system
    • Kamoshita, S., Y. Konishi, M. Segawa, Y. Fukuyama: Congenital muscular dystrophy as a disease of the central nervous system. Arch. Neurol. 33 (1976) 513-516
    • (1976) Arch. Neurol. , vol.33 , pp. 513-516
    • Kamoshita, S.1    Konishi, Y.2    Segawa, M.3    Fukuyama, Y.4
  • 22
    • 0027314631 scopus 로고
    • Fukuyama-type congenital muscular dystrophy and the, Walker-Warburg syndrome
    • Kimura, S., Y. Sasaki, T. Kobayashi, N. Ohtsuki, Y. Tanaka, M. Hara et al: Fukuyama-type congenital muscular dystrophy and the, Walker-Warburg syndrome. Brain. Dev 15 (1993) 182-191
    • (1993) Brain. Dev , vol.15 , pp. 182-191
    • Kimura, S.1    Sasaki, Y.2    Kobayashi, T.3    Ohtsuki, N.4    Tanaka, Y.5    Hara, M.6
  • 23
    • 0021331946 scopus 로고
    • Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families
    • Korinthenberg, R., D. Palm, W. Schlake, J. Klein: Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families. Eur. J. Pediatr 142 (1984) 64-68
    • (1984) Eur. J. Pediatr , vol.142 , pp. 64-68
    • Korinthenberg, R.1    Palm, D.2    Schlake, W.3    Klein, J.4
  • 25
    • 0027428923 scopus 로고
    • Muscle involvement in Walker-Warburg syndrome: Clmicopathologic features of four cases
    • Lightig, C., R. M. Ludatscher, H. Mandel, R. Gershoni-Baruch: Muscle involvement in Walker-Warburg syndrome: Clmicopathologic features of four cases. Am. J. Clin. Pathol. 100 (1993) 493-196
    • (1993) Am. J. Clin. Pathol. , vol.100 , pp. 493-1196
    • Lightig, C.1    Ludatscher, R.M.2    Mandel, H.3    Gershoni-Baruch, R.4
  • 26
    • 0022402229 scopus 로고
    • Congenital muscular dystrophy associated with lethal arthrogryposis multiplex congenita
    • Moerman, P. H., J. P. Fryns, H. Van Dijck, J. M. Lauweryns: Congenital muscular dystrophy associated with lethal arthrogryposis multiplex congenita Virchows Arch. Pathol Anat. 408 (1985) 43-48
    • (1985) Virchows Arch. Pathol Anat. , vol.408 , pp. 43-48
    • Moerman, P.H.1    Fryns, J.P.2    Van Dijck, H.3    Lauweryns, J.M.4
  • 29
    • 0026328022 scopus 로고
    • Dystrophin-associated proteins are greatly reduced in skeletal muscle from the mdx mice
    • Ohlendieck, K., K. P. Campbell: Dystrophin-associated proteins are greatly reduced in skeletal muscle from the mdx mice J. Cell Biol. 115 (1991) 1685-1694
    • (1991) J. Cell Biol. , vol.115 , pp. 1685-1694
    • Ohlendieck, K.1    Campbell, K.P.2
  • 30
  • 31
    • 0028346982 scopus 로고
    • Congenital muscular dystrophy with distinct CNS involvement
    • Olive, M., J. Sirvent, I. Ferrer: Congenital muscular dystrophy with distinct CNS involvement. Neuropediatncs 25 (1994) 48-50
    • (1994) Neuropediatncs , vol.25 , pp. 48-50
    • Olive, M.1    Sirvent, J.2    Ferrer, I.3
  • 32
    • 0025816789 scopus 로고
    • Lethal arthrogryposis multiplex congenita: A pathological study of 21 cases
    • Quinn, C. M., J. S. Wigglesworth, J. Heckmatt: Lethal arthrogryposis multiplex congenita: A pathological study of 21 cases. Histopathology 19 (1091) 155-162
    • (1091) Histopathology , vol.19 , pp. 155-162
    • Quinn, C.M.1    Wigglesworth, J.S.2    Heckmatt, J.3
  • 34
    • 0025452679 scopus 로고
    • Muscle-eye-brain disease and Walker-Warburg syndrome
    • Santavuori, P: Muscle-eye-brain disease and Walker-Warburg syndrome. Am J Med. Genet. 30 (1990) 371-372
    • (1990) Am J Med. Genet. , vol.30 , pp. 371-372
    • Santavuori, P.1
  • 36
    • 0038511677 scopus 로고
    • Clinicopathologic study of congenital progressive muscular dystrophy (Fukuyama type)
    • Shishikura, K., M. Osawa, H. Suzuki, Y Hirayama, K. Saito, N. Okada et al: Clinicopathologic study of congenital progressive muscular dystrophy (Fukuyama type). Acta Paediatr. Jpn. 92 (1988) 215-224
    • (1988) Acta Paediatr. Jpn. , vol.92 , pp. 215-224
    • Shishikura, K.1    Osawa, M.2    Suzuki, H.3    Hirayama, Y.4    Saito, K.5    Okada, N.6
  • 37
    • 0028331166 scopus 로고
    • Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita: Three new cases and review of the literature
    • Sombekke, B. H. E, W. M. Molenaar, A. J. van Essen, C. J. F. Schools: Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita: Three new cases and review of the literature. Pediatric Pathology 14 (1994) 277-285
    • (1994) Pediatric Pathology , vol.14 , pp. 277-285
    • Sombekke, B.H.E.1    Molenaar, W.M.2    Van Essen, A.J.3    Schools, C.J.F.4
  • 38
    • 0021136592 scopus 로고
    • Cortical dysplasia in congenital muscular dystrophy with central nervous system involvement (Fukuyama type)
    • Takada, K., H. Nakamura, J. Tanaka: Cortical dysplasia in congenital muscular dystrophy with central nervous system involvement (Fukuyama type). J. Neuropathol Exp. Neurol. 43 (1984) 395-407
    • (1984) J. Neuropathol Exp. Neurol. , vol.43 , pp. 395-407
    • Takada, K.1    Nakamura, H.2    Tanaka, J.3
  • 40
    • 0026771883 scopus 로고
    • Selective involvement of the quadriceps muscle in congenital muscular dystrophies. An ultrasonographic study
    • Topaluglu, H., K. Gucuyener, K. Yalaz, Y. Renda, M. Topcu, S. Aysun et al: Selective involvement of the quadriceps muscle in congenital muscular dystrophies. An ultrasonographic study. Brain Dev. 14 (1992) 84-87
    • (1992) Brain Dev. , vol.14 , pp. 84-87
    • Topaluglu, H.1    Gucuyener, K.2    Yalaz, K.3    Renda, Y.4    Topcu, M.5    Aysun, S.6
  • 41
    • 0021678766 scopus 로고
    • Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome
    • Towfighi, J., J. W. Sassani, K. Suzuki, R. L. Ladda: Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome. Acta Neuropathol. 65 (1984) 110-123
    • (1984) Acta Neuropathol. , vol.65 , pp. 110-123
    • Towfighi, J.1    Sassani, J.W.2    Suzuki, K.3    Ladda, R.L.4
  • 42
    • 0029055267 scopus 로고
    • Preserved merosrn M-chain (or laminin-α2) expression in the skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosm-deficient congenital muscular dystrophy
    • Voit, T., C. A. Sewry, K. Meyer, R. Hermann, V. Strab, F. Muntoni et al: Preserved merosrn M-chain (or laminin-α2) expression in the skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosm-deficient congenital muscular dystrophy Neuropediatrics 26 (1995) 148-155
    • (1995) Neuropediatrics , vol.26 , pp. 148-155
    • Voit, T.1    Sewry, C.A.2    Meyer, K.3    Hermann, R.4    Strab, V.5    Muntoni, F.6
  • 43
    • 0025811314 scopus 로고
    • Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: New entity or variant of Walker-Warburg syndrome?
    • Wargowski, D. S., D. Chitayat, R. W. Tyson, M. G. Norman, J. M. Friedman: Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: New entity or variant of Walker-Warburg syndrome? Am J. Med. Genet 39 (1991) 19-24
    • (1991) Am J. Med. Genet , vol.39 , pp. 19-24
    • Wargowski, D.S.1    Chitayat, D.2    Tyson, R.W.3    Norman, M.G.4    Friedman, J.M.5
  • 45
    • 0027285691 scopus 로고
    • A case of Walker-Warburg syndrome with uncommon findings. Double cortical layer, temporal cyst and increased serum IgM
    • Yamaguchi, E., T. Hayashi, H. Kondoh, N. Tashiro, M. Tsukahara, T. Nagamitsu et al A case of Walker-Warburg syndrome with uncommon findings. Double cortical layer, temporal cyst and increased serum IgM. Brain Dev 15 (1993) 61-65
    • (1993) Brain Dev , vol.15 , pp. 61-65
    • Yamaguchi, E.1    Hayashi, T.2    Kondoh, H.3    Tashiro, N.4    Tsukahara, M.5    Nagamitsu, T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.