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Volumn 49, Issue 6, 2014, Pages 928-930

Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BODY FAT DISTRIBUTION; CASE REPORT; COPY NUMBER VARIATION; EXON; FATTY LIVER; GENE MUTATION; HUMAN; INTRON; KARYOTYPING; LEG MUSCLE; LIPID STORAGE; LIPODYSTROPHY; LIPOMATOSIS; MENSTRUAL IRREGULARITY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE BIOPSY; MUSCLE METABOLISM; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROADIPOCYTE; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST; SOLEUS MUSCLE; THIGH;

EID: 84900482651     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.24157     Document Type: Article
Times cited : (14)

References (6)
  • 1
    • 0036098280 scopus 로고    scopus 로고
    • Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene
    • Garg A, Speckman RA, Bowcock AM. Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. Am J Med 2002;112:549-555.
    • (2002) Am J Med , vol.112 , pp. 549-555
    • Garg, A.1    Speckman, R.A.2    Bowcock, A.M.3
  • 2
    • 70349195987 scopus 로고    scopus 로고
    • Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
    • Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, et al. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest 2009;119:2623-2633.
    • (2009) J Clin Invest , vol.119 , pp. 2623-2633
    • Hayashi, Y.K.1    Matsuda, C.2    Ogawa, M.3    Goto, K.4    Tominaga, K.5    Mitsuhashi, S.6
  • 5
    • 0032929386 scopus 로고    scopus 로고
    • Multiplex western blotting system for the analysis of muscular dystrophy proteins
    • Anderson LVB, Davison K. Multiplex western blotting system for the analysis of muscular dystrophy proteins. Am J Pathol 1999;154:1017-1022.
    • (1999) Am J Pathol , vol.154 , pp. 1017-1022
    • Anderson, L.V.B.1    Davison, K.2
  • 6
    • 20444449733 scopus 로고    scopus 로고
    • Altered pre-lamin A processing is a common mechanism leading to lipodystrophy
    • Columbaro M, Mattioli E, Schena E, Capanni C, Cenni V, Levy N, et al. Altered pre-lamin A processing is a common mechanism leading to lipodystrophy. Hum Mol Genet 2005;14:1489-1502.
    • (2005) Hum Mol Genet , vol.14 , pp. 1489-1502
    • Columbaro, M.1    Mattioli, E.2    Schena, E.3    Capanni, C.4    Cenni, V.5    Levy, N.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.