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Volumn 40, Issue 2, 2000, Pages 170-173

A case of spinal muscular atrophy with marked calf hypertrophy and adolescent onset

Author keywords

Adolescent onset; Hypertrophic calves; Kugelberg Welander disease; Spinal muscular atrophy; Survival motor neuron (SMN) gene

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; GASTROCNEMIUS MUSCLE; HUMAN; KUGELBERG WELANDER DISEASE; MALE; MUSCLE HYPERTROPHY; ONSET AGE; SPINAL MUSCULAR ATROPHY;

EID: 0034076344     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)

References (10)
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    • Reimers, C.D.1    Schlotter, B.2    Eicke, B.M.3
  • 2
    • 0000089061 scopus 로고
    • Heredofamilial juvenile muscular atrophy simulating muscular dystrophy
    • Chic
    • Kugelberg E, Welander L : Heredofamilial juvenile muscular atrophy simulating muscular dystrophy. Arch Neurol Psychiatry (Chic) 75 : 500-509, 1956
    • (1956) Arch Neurol Psychiatry , vol.75 , pp. 500-509
    • Kugelberg, E.1    Welander, L.2
  • 3
    • 0014879607 scopus 로고
    • Chronic proximal spinal muscular atrophy
    • Namba T, Aberfeld DC, Grob D : Chronic proximal spinal muscular atrophy. J Neurol Sci 11 : 401-423, 1970
    • (1970) J Neurol Sci , vol.11 , pp. 401-423
    • Namba, T.1    Aberfeld, D.C.2    Grob, D.3
  • 4
    • 0018099655 scopus 로고
    • Anterior-horn cell degeneration and gross calf hypertrophy with adolescent onset
    • Pearn J, Hudgson P : Anterior-horn cell degeneration and gross calf hypertrophy with adolescent onset. Lancet i : 1059-1061, 1978
    • (1978) Lancet , vol.1 , pp. 1059-1061
    • Pearn, J.1    Hudgson, P.2
  • 5
    • 0018903815 scopus 로고
    • Spinal muscular atrophy and hypertrophy of the calves
    • Bouwsma G, van Wijngaarden GK : Spinal muscular atrophy and hypertrophy of the calves. J Neurol Sci 44 : 275-279, 1980
    • (1980) J Neurol Sci , vol.44 , pp. 275-279
    • Bouwsma, G.1    Van Wijngaarden, G.K.2
  • 7
    • 6744223666 scopus 로고    scopus 로고
    • Benign spinal muscular atrophy with gross calf hypertrophy and adolescent onset (Pearn' s syndrome) is associated to deletions of survival motor neuron gene
    • Pou A, Pascual J, Bussaglia E : Benign spinal muscular atrophy with gross calf hypertrophy and adolescent onset (Pearn' s syndrome) is associated to deletions of survival motor neuron gene (Abstr). J Neurol 244 [Suppl. 3] : S93, 1997
    • (1997) J Neurol , vol.244 , Issue.3 SUPPL.
    • Pou, A.1    Pascual, J.2    Bussaglia, E.3
  • 8
    • 0031686467 scopus 로고    scopus 로고
    • The role of the SMN gene in proximal spinal muscular atrophy
    • Lefebvre S, Bürglen L, Frézal J, et al : The role of the SMN gene in proximal spinal muscular atrophy. Hum Mol Genet 7 : 1531-1536, 1998
    • (1998) Hum Mol Genet , vol.7 , pp. 1531-1536
    • Lefebvre, S.1    Bürglen, L.2    Frézal, J.3
  • 9
    • 0028922174 scopus 로고
    • PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
    • Van der Steege G, Grootscholten PM, van der Vlies P, et al : PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 345 : 985-986, 1995
    • (1995) Lancet , vol.345 , pp. 985-986
    • Van Der Steege, G.1    Grootscholten, P.M.2    Van Der Vlies, P.3
  • 10
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    • Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics
    • Scharf JM, Endrizzi MG, Wetter A, et al : Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nature Genet 20 : 83-86, 1998
    • (1998) Nature Genet , vol.20 , pp. 83-86
    • Scharf, J.M.1    Endrizzi, M.G.2    Wetter, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.