메뉴 건너뛰기




Volumn 20, Issue 8, 2010, Pages 534-539

Clinical characterization and genetic analysis of a possible novel type of dominant Charcot-Marie-Tooth disease

Author keywords

Charcot Marie Tooth disease; CMT; DI CMT; Dominant intermediate CMT; HMSN

Indexed keywords

ADOLESCENT; ADULT; AREFLEXIA; ARTICLE; CHROMOSOME 3Q; CLINICAL ARTICLE; DEMYELINATION; DISEASE SEVERITY; FEMALE; GENE LOCUS; GENETIC ANALYSIS; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPOREFLEXIA; LINKAGE ANALYSIS; MALE; MEDIAN NERVE; MICROSATELLITE MARKER; MOTOR NERVE CONDUCTION; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NERVE BIOPSY; NERVE POTENTIAL; ONSET AGE; PEDIGREE ANALYSIS; PERONEUS NERVE; PRIORITY JOURNAL; SURAL NERVE;

EID: 77955276229     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.05.001     Document Type: Article
Times cited : (5)

References (17)
  • 1
    • 84882866259 scopus 로고    scopus 로고
    • Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features
    • Elsevier Saunders, Philadelphia, P.J. Dyck, P.K. Thomas (Eds.)
    • Shy M.E., Lupski J.R., Chance P., et al. Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features. Peripheral Neuropathy, 4th ed 2005, 1094-1136. Elsevier Saunders, Philadelphia. P.J. Dyck, P.K. Thomas (Eds.).
    • (2005) Peripheral Neuropathy, 4th ed , pp. 1094-1136
    • Shy, M.E.1    Lupski, J.R.2    Chance, P.3
  • 2
    • 0018942439 scopus 로고
    • The clinical features of hereditary motor and sensory neuropathy type I and II
    • Harding A.E., Thomas P.K. The clinical features of hereditary motor and sensory neuropathy type I and II. Brain 1980, 103:259-280.
    • (1980) Brain , vol.103 , pp. 259-280
    • Harding, A.E.1    Thomas, P.K.2
  • 3
    • 0018222952 scopus 로고
    • The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification
    • Davis C.J., Bradley W.G., Madrid R. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J Genet Hum 1978, 26:311-349.
    • (1978) J Genet Hum , vol.26 , pp. 311-349
    • Davis, C.J.1    Bradley, W.G.2    Madrid, R.3
  • 4
    • 0034835050 scopus 로고    scopus 로고
    • Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1
    • Verhoeven K., Villanova M., Rossi A., et al. Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. Am J Hum Genet 2001, 69:889-894.
    • (2001) Am J Hum Genet , vol.69 , pp. 889-894
    • Verhoeven, K.1    Villanova, M.2    Rossi, A.3
  • 5
    • 20144366550 scopus 로고    scopus 로고
    • Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
    • Zuchner S., Noureddine M., Kennerson M., et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet 2005, 37:289-294.
    • (2005) Nat Genet , vol.37 , pp. 289-294
    • Zuchner, S.1    Noureddine, M.2    Kennerson, M.3
  • 6
    • 67650066361 scopus 로고    scopus 로고
    • Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
    • Claeys K.G., Zuchner S., Kennerson M., et al. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain 2009, 132:1741-1752.
    • (2009) Brain , vol.132 , pp. 1741-1752
    • Claeys, K.G.1    Zuchner, S.2    Kennerson, M.3
  • 7
    • 31744448271 scopus 로고    scopus 로고
    • Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
    • Jordanova A., Irobi J., Thomas F.P., et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet 2006, 38:197-202.
    • (2006) Nat Genet , vol.38 , pp. 197-202
    • Jordanova, A.1    Irobi, J.2    Thomas, F.P.3
  • 8
    • 0032810513 scopus 로고    scopus 로고
    • Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy
    • Mastaglia F.L., Nowak K.J., Stell R., et al. Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry 1999, 67:174-179.
    • (1999) J Neurol Neurosurg Psychiatry , vol.67 , pp. 174-179
    • Mastaglia, F.L.1    Nowak, K.J.2    Stell, R.3
  • 9
    • 34447260902 scopus 로고    scopus 로고
    • Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene
    • Miltenberger-Miltenyi G., Janecke A.R., Wanschitz J.V., et al. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. Arch Neurol 2007, 64:966-970.
    • (2007) Arch Neurol , vol.64 , pp. 966-970
    • Miltenberger-Miltenyi, G.1    Janecke, A.R.2    Wanschitz, J.V.3
  • 10
    • 0037168759 scopus 로고    scopus 로고
    • Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy
    • Nelis E., Erdem S., Van den Bergh P.Y.K., et al. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology 2002, 59:1865-1872.
    • (2002) Neurology , vol.59 , pp. 1865-1872
    • Nelis, E.1    Erdem, S.2    Van den Bergh, P.Y.K.3
  • 11
    • 0037370916 scopus 로고    scopus 로고
    • Mutations in the ganglioside-induced differention-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
    • Senderek J., Bergmann C., Ramaekers V.T., et al. Mutations in the ganglioside-induced differention-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain 2003, 126:642-649.
    • (2003) Brain , vol.126 , pp. 642-649
    • Senderek, J.1    Bergmann, C.2    Ramaekers, V.T.3
  • 12
    • 16944366517 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families
    • Rouger H., LeGuern E., Birouk N., et al. Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families. Hum Mutat 1997, 10:443-452.
    • (1997) Hum Mutat , vol.10 , pp. 443-452
    • Rouger, H.1    LeGuern, E.2    Birouk, N.3
  • 13
    • 84882837398 scopus 로고    scopus 로고
    • Nerve conduction studies and needle electromyography
    • Elsevier Saunders, Philadelphia, P.J. Dyck, P.K. Thomas (Eds.)
    • Kimura J. Nerve conduction studies and needle electromyography. Peripheral Neuropathy, 4th ed 2005, 899-970. Elsevier Saunders, Philadelphia. P.J. Dyck, P.K. Thomas (Eds.).
    • (2005) Peripheral Neuropathy, 4th ed , pp. 899-970
    • Kimura, J.1
  • 14
    • 0035051016 scopus 로고    scopus 로고
    • Polymorphic short tandem repeats for diagnosis of Charcot-Marie-Tooth 1A duplication
    • Latour P., Boutrand L., Levy N., et al. Polymorphic short tandem repeats for diagnosis of Charcot-Marie-Tooth 1A duplication. Clin Chem 2001, 47:829-837.
    • (2001) Clin Chem , vol.47 , pp. 829-837
    • Latour, P.1    Boutrand, L.2    Levy, N.3
  • 15
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: a unified multipoint approach
    • Kruglyak L., Daly M.J., Reeve-Daly M.P., et al. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996, 58:1347-1363.
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3
  • 16
    • 0028877463 scopus 로고
    • Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results
    • Lander E., Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995, 11:241-247.
    • (1995) Nat Genet , vol.11 , pp. 241-247
    • Lander, E.1    Kruglyak, L.2
  • 17
    • 0035231837 scopus 로고    scopus 로고
    • Ultrastructural findings in the peripheral nerve in a family with the intermediate form of Charcot-Marie-Tooth disease
    • Malandrini A., Ceuterick C., Villanov M., et al. Ultrastructural findings in the peripheral nerve in a family with the intermediate form of Charcot-Marie-Tooth disease. J Submicrosc Cytol Pathol 2001, 33:59-63.
    • (2001) J Submicrosc Cytol Pathol , vol.33 , pp. 59-63
    • Malandrini, A.1    Ceuterick, C.2    Villanov, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.