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Diabetologia
Volumn 47, Issue 4, 2004, Pages 753-756
Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene [1]
Author keywords

Compound heterozygosity; Insulin resistance; Lamin; Partial lipodystrophy
Indexed keywords

ARGININE; CREATINE KINASE; FAT; HISTIDINE; LAMIN A; LAMIN C; LEUCINE; LYSINE; METHIONINE; SERINE; THREONINE;
EID: 2442677998     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00125-004-1360-4     Document Type: Letter
Times cited : (40)
References (8)
  • 1
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    • Jackson SN, Hewlett TA, McNally PG, O'Rahilly S, Trembath RC (1997) Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy. QJM 90:27-36
    • (1997) QJM , vol.90 , pp. 27-36
    • Jackson, S.N.1    Hewlett, T.A.2    McNally, P.G.3    O'Rahilly, S.4    Trembath, R.C.5
  • 2
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    • Lipodystrophies
    • Garg A (2000) Lipodystrophies. Am J Med 108:143-152
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    • Garg, A.1
  • 3
    • 0036347096 scopus 로고    scopus 로고
    • Life at the edge: The nuclear envelope and human disease
    • Burke B, Stewart CL (2002) Life at the edge: the nuclear envelope and human disease. Nat Rev Mol Cell Biol 3:575-585
    • (2002) Nat Rev Mol Cell Biol , vol.3 , pp. 575-585
    • Burke, B.1    Stewart, C.L.2
  • 4
    • 0035145898 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene
    • Garg A, Vinaitheerthan M, Weatherall PT, Bowcock AM (2001) Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene. J Clin Endocrinol Metab 86:59-65
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 59-65
    • Garg, A.1    Vinaitheerthan, M.2    Weatherall, P.T.3    Bowcock, A.M.4
  • 5
    • 0033694702 scopus 로고    scopus 로고
    • Heterogeneity of nuclear lamin a mutations in Dunnigan-type familial partial lipodystrophy
    • Hegele RA, Cao H, Anderson CM, Hramiak IM (2000) Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. J Clin Endocrinol Metab 85:3431-3435
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 3431-3435
    • Hegele, R.A.1    Cao, H.2    Anderson, C.M.3    Hramiak, I.M.4
  • 6
    • 0033755274 scopus 로고    scopus 로고
    • Lamin A/C gene: Sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy
    • Vigoureux C, Magre J, Vantyghem MC et al. (2000) Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy. Diabetes 49:1958-1962
    • (2000) Diabetes , vol.49 , pp. 1958-1962
    • Vigoureux, C.1    Magre, J.2    Vantyghem, M.C.3
  • 7
    • 0033865686 scopus 로고    scopus 로고
    • Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
    • Bonne G, Mercuri E, Muchir A et al. (2000) Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 48:170-180
    • (2000) Ann Neurol , vol.48 , pp. 170-180
    • Bonne, G.1    Mercuri, E.2    Muchir, A.3
  • 8
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    • Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
    • Novelli G, Muchir A, Sangiuolo F et al. (2002) Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet 71:426-431
    • (2002) Am J Hum Genet , vol.71 , pp. 426-431
    • Novelli, G.1    Muchir, A.2    Sangiuolo, F.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.