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Volumn 21, Issue 9, 1998, Pages 1199-1201

Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene

Author keywords

Hereditary neuropathy with liability to pressure palsies; Heterogeneity; Peripheral myelin protein 22 gene deletion; Phenotype

Indexed keywords

ADULT; ARTICLE; BRACHIAL PLEXUS INJURY; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DNA DETERMINATION; GENE DELETION; GENETIC HETEROGENEITY; HUMAN; MALE; NERVE CONDUCTION; NEUROPATHY; PRIORITY JOURNAL; RECURRENT DISEASE;

EID: 2642704986     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199809)21:9<1199::AID-MUS12>3.0.CO;2-N     Document Type: Article
Times cited : (20)

References (15)
  • 1
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNa duplication/deletion of a region on chromosome 17
    • Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR: Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 1994;3:223-228.
    • (1994) Hum Mol Genet , vol.3 , pp. 223-228
    • Chance, P.F.1    Abbas, N.2    Lensch, M.W.3    Pentao, L.4    Roa, B.B.5    Patel, P.I.6    Lupski, J.R.7
  • 5
    • 0024535546 scopus 로고
    • Recurrent familial brachial plexus palsies as the only clinical expression of 'tomaculous' neuropathy
    • Martinelli P, Fabbri R, Moretto G, Gabellini AS, D'Alessandro R, Rizzuto N: Recurrent familial brachial plexus palsies as the only clinical expression of 'tomaculous' neuropathy. Eur Neurol 1989;29:61-66.
    • (1989) Eur Neurol , vol.29 , pp. 61-66
    • Martinelli, P.1    Fabbri, R.2    Moretto, G.3    Gabellini, A.S.4    D'Alessandro, R.5    Rizzuto, N.6
  • 7
    • 0029863589 scopus 로고    scopus 로고
    • Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study
    • Nelis E, Van Broeckhoven C: Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996;4:25-33.
    • (1996) Eur J Hum Genet , vol.4 , pp. 25-33
    • Nelis, E.1    Van Broeckhoven, C.2
  • 9
    • 0029995031 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2 deletion
    • Pareyson D, Scaioli V, Taroni F, Botti S, Lorenzetti D, Solari A, Ciano C, Sghirlanzoni A: Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2 deletion. Neurology 1996;46: 1133-1137.
    • (1996) Neurology , vol.46 , pp. 1133-1137
    • Pareyson, D.1    Scaioli, V.2    Taroni, F.3    Botti, S.4    Lorenzetti, D.5    Solari, A.6    Ciano, C.7    Sghirlanzoni, A.8
  • 10
    • 0030000575 scopus 로고    scopus 로고
    • Mapping of hereditary neuralgic amyotrophy (familial plexus brachialis neuropathy) to distal chromosome 17q
    • Pellegrino JE, Rebbeck TR, Brown MJ, Bird TD, Chance PF: Mapping of hereditary neuralgic amyotrophy (familial plexus brachialis neuropathy) to distal chromosome 17q. Neurology 1996;46:1128-1132.
    • (1996) Neurology , vol.46 , pp. 1128-1132
    • Pellegrino, J.E.1    Rebbeck, T.R.2    Brown, M.J.3    Bird, T.D.4    Chance, P.F.5
  • 12
    • 0030048699 scopus 로고    scopus 로고
    • Deletions of chromosome 17p11.2 in multifocal neuropathies
    • Tyson J, Malcolm S, Thomas PK, Harding AE: Deletions of chromosome 17p11.2 in multifocal neuropathies. Ann Neurol 1996;39:180-186.
    • (1996) Ann Neurol , vol.39 , pp. 180-186
    • Tyson, J.1    Malcolm, S.2    Thomas, P.K.3    Harding, A.E.4
  • 13
    • 0001215716 scopus 로고
    • Inherited recurrent focal neuropathies
    • Dyck, PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds): Philadelphia, Saunders
    • Windebank AJ: Inherited recurrent focal neuropathies, in Dyck, PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds): Peripheral Neuropathy. 3rd ed. Philadelphia, Saunders, 1993, pp 1137-1148.
    • (1993) Peripheral Neuropathy. 3rd Ed. , pp. 1137-1148
    • Windebank, A.J.1
  • 14
    • 0029846132 scopus 로고    scopus 로고
    • Four frequently observed polymorphisms in the 3′UTR of the human peripheral myelin protein 22 (PMP22) gene
    • Young P, Wiebusch H, Stögbauer F, Ringelstein EB, Assmann G, Funke H: Four frequently observed polymorphisms in the 3′UTR of the human peripheral myelin protein 22 (PMP22) gene. Clin Genet 1996;49:321-322.
    • (1996) Clin Genet , vol.49 , pp. 321-322
    • Young, P.1    Wiebusch, H.2    Stögbauer, F.3    Ringelstein, E.B.4    Assmann, G.5    Funke, H.6
  • 15
    • 0031028126 scopus 로고    scopus 로고
    • A frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies (HNPP)
    • Young P, Wiebusch H, Stögbauer F, Ringelstein EB, Assmann G, Funke H: A frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies (HNPP). Neurology 1997;48:450-452.
    • (1997) Neurology , vol.48 , pp. 450-452
    • Young, P.1    Wiebusch, H.2    Stögbauer, F.3    Ringelstein, E.B.4    Assmann, G.5    Funke, H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.