메뉴 건너뛰기




Volumn 14, Issue 2, 2004, Pages 125-129

Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: A clinical and muscle MRI study

Author keywords

Congenital; Distal spinal muscular atrophy; Familial; Sporadic

Indexed keywords

ADDUCTOR LONGUS; ADOLESCENT; ADULT; ARTICLE; BREATHING; CHILD; CHROMOSOME 12Q; CLINICAL ARTICLE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; ELECTROMYOGRAPHY; FEMALE; FUNCTIONAL ASSESSMENT; GENE LOCUS; GENETIC ANALYSIS; GENETIC LINKAGE; HEART FUNCTION; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; IMAGE ANALYSIS; LEG; LEG LENGTH; LEG MUSCLE; LINKAGE ANALYSIS; MALE; MOBILIZATION; MOTONEURON; MOTOR NERVE CONDUCTION; MOTOR PERFORMANCE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CONTRACTURE; MUSCLE HYPERTROPHY; MUSCLE WEAKNESS; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY FUNCTION; SEMITENDINOUS MUSCLE; SKELETAL MUSCLE; SPINAL MUSCULAR ATROPHY; WALKING; WALKING AID;

EID: 0347721095     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2003.09.005     Document Type: Article
Times cited : (40)

References (17)
  • 2
    • 0347159850 scopus 로고
    • Chronic neurogenic muscle atrophies of infancy. Their nosological relationship with Wernig-Hoffmann's disease
    • Lugaresi F., Gambetti P., Giovannardi Rossi P. Chronic neurogenic muscle atrophies of infancy. Their nosological relationship with Wernig-Hoffmann's disease. J Neurol Sci. 3:1966;399-409.
    • (1966) J Neurol Sci , vol.3 , pp. 399-409
    • Lugaresi, F.1    Gambetti, P.2    Giovannardi Rossi, P.3
  • 3
    • 0018306348 scopus 로고
    • Distal spinal muscular atrophy. A clinical and genetic study of 8 kindreds
    • Pearn J., Hudgson P. Distal spinal muscular atrophy. A clinical and genetic study of 8 kindreds. J Neurol Sci. 43:1979;183-191.
    • (1979) J Neurol Sci , vol.43 , pp. 183-191
    • Pearn, J.1    Hudgson, P.2
  • 4
    • 0018901265 scopus 로고
    • Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature
    • Harding A., Thomas P.K. Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature. J Neurol Sci. 45:1980;337-348.
    • (1980) J Neurol Sci , vol.45 , pp. 337-348
    • Harding, A.1    Thomas, P.K.2
  • 5
    • 0022394535 scopus 로고
    • A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis
    • Fleury P., Hageman G. A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis. J Neurol Neurosurg Psychiatry. 48:1985;1037-1048.
    • (1985) J Neurol Neurosurg Psychiatry , vol.48 , pp. 1037-1048
    • Fleury, P.1    Hageman, G.2
  • 6
    • 0026733132 scopus 로고
    • A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features
    • De Long R., Siddique T. A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features. Arch Neurol. 49:1992;905-908.
    • (1992) Arch Neurol , vol.49 , pp. 905-908
    • De Long, R.1    Siddique, T.2
  • 8
    • 0028904170 scopus 로고
    • Autosomal dominant distal spinal muscular atrophy in four generations
    • Boylan K.B., Cornblath D.R., Glass J.D., et al. Autosomal dominant distal spinal muscular atrophy in four generations. Neurology. 45:1995;699-704.
    • (1995) Neurology , vol.45 , pp. 699-704
    • Boylan, K.B.1    Cornblath, D.R.2    Glass, J.D.3
  • 9
    • 0025319713 scopus 로고
    • Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q
    • Melki J., Abdelhak S., Sheth P., et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature. 334:1990;767-768.
    • (1990) Nature , vol.334 , pp. 767-768
    • Melki, J.1    Abdelhak, S.2    Sheth, P.3
  • 10
    • 0025299356 scopus 로고
    • Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14
    • Melki J., Sheth P., Abdelhak S., et al. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. Lancet. 336:1990;271-273.
    • (1990) Lancet , vol.336 , pp. 271-273
    • Melki, J.1    Sheth, P.2    Abdelhak, S.3
  • 11
    • 0031842226 scopus 로고    scopus 로고
    • Congenital autosomal dominant distal spinal muscular atrophy
    • Adams C., Suchowersky O., Lowry B.R. Congenital autosomal dominant distal spinal muscular atrophy. Neuromuscul Disord. 8:1998;405-408.
    • (1998) Neuromuscul Disord , vol.8 , pp. 405-408
    • Adams, C.1    Suchowersky, O.2    Lowry, B.R.3
  • 12
    • 0027771377 scopus 로고
    • Pontocerebellar hypoplasia. An overview of a group of inherited neurodegenerative disorders with fetal onset
    • Barth P.G. Pontocerebellar hypoplasia. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev. 15:1993;411-422.
    • (1993) Brain Dev , vol.15 , pp. 411-422
    • Barth, P.G.1
  • 13
    • 0032726302 scopus 로고    scopus 로고
    • Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1
    • Muntoni F., Goodwin F., Sewry C., et al. Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1. Neuropediatrics. 30:1999;243-248.
    • (1999) Neuropediatrics , vol.30 , pp. 243-248
    • Muntoni, F.1    Goodwin, F.2    Sewry, C.3
  • 14
    • 0028854467 scopus 로고
    • Olivopontocerebellar hypoplasia with anterior horn cell involvement (SMA) does not localize to chromosome 5q
    • Dubowitz V., Daniels R.J., Davies K.E. Olivopontocerebellar hypoplasia with anterior horn cell involvement (SMA) does not localize to chromosome 5q. Neuromuscul Disord. 5:1995;25-29.
    • (1995) Neuromuscul Disord , vol.5 , pp. 25-29
    • Dubowitz, V.1    Daniels, R.J.2    Davies, K.E.3
  • 15
    • 17944374029 scopus 로고    scopus 로고
    • Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
    • Grohmann K., Schuelke M., Diers A., et al. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet. 29:2001;75-77.
    • (2001) Nat Genet , vol.29 , pp. 75-77
    • Grohmann, K.1    Schuelke, M.2    Diers, A.3
  • 17
    • 0031855489 scopus 로고    scopus 로고
    • Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24
    • Van der Vleuten A.J.W., van Ravenswaaij-Arts C.M.A., Frijns C.J.M., et al. Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24. Eur J Hum Genet. 6:1998;376-382.
    • (1998) Eur J Hum Genet , vol.6 , pp. 376-382
    • Van Der Vleuten, A.J.W.1    Van Ravenswaaij-Arts, C.M.A.2    Frijns, C.J.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.