La myopathie facio-scapulo-humérale : un défaut de répression?

Hélène Gilgenkrantz

doi:10.1051/medsci/200319127

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Volume 19 / Numéro 1 (Janvier 2003)

Med Sci (Paris), 19 1 (2003) 27-28

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Numéro		Med Sci (Paris) Volume 19, Numéro 1, Janvier 2003


Page(s)		27 - 28
Section		Le Magazine : Nouvelles
DOI		https://doi.org/10.1051/medsci/200319127
Publié en ligne		15 janvier 2003

Sarfarazi M, Wijmenga C, Upadhyaya M, et al. Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. Am J Hum Genet 1992; 51: 396–403. [Google Scholar]
Wijmenga C, Brouwer OF, Padberg GW, Frants RR. Transmission of de novo mutation associated with facioscapulohumeral muscular dystrophy. Lancet 1992; 340: 985–6. [Google Scholar]
Wijmenga C, Hewitt JE, Sandkuijl LA, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 1992; 2 : 26–30. [Google Scholar]
Lunt PW. Facioscapulohumeral muscular dystrophy: molecular studies. 44th ENMC International Workshop, 19-21 July 1996, Naarden, The Netherlands. Neuromusc Disord 1998; 8: 126–30. [Google Scholar]
Tupler R, Berardinelli A, Barbierato L, et al. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet 1996; 33: 366–70. [Google Scholar]
Tupler R, Perini G, Pellegrino MA, Green MR. Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy. Proc Natl Acad Sci USA 1999; 96: 12650–4. [Google Scholar]
Gabellini D, Green M, Tupler R. Inappropriate gene activation in FSHD. A repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 2002; 110: 339–48. [Google Scholar]
Kaukonen J, Juselius JK, Tiranti V, et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000; 289: 782–5. [Google Scholar]
Napoli L, Bordoni A, Zeviani M, et al. A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. Neurology 2001; 57: 2295–8. [Google Scholar]

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[1] Sarfarazi M, Wijmenga C, Upadhyaya M, et al. Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. Am J Hum Genet 1992; 51: 396–403. [Google Scholar]

[2] Wijmenga C, Brouwer OF, Padberg GW, Frants RR. Transmission of de novo mutation associated with facioscapulohumeral muscular dystrophy. Lancet 1992; 340: 985–6. [Google Scholar]

[3] Wijmenga C, Hewitt JE, Sandkuijl LA, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 1992; 2 : 26–30. [Google Scholar]

[4] Lunt PW. Facioscapulohumeral muscular dystrophy: molecular studies. 44th ENMC International Workshop, 19-21 July 1996, Naarden, The Netherlands. Neuromusc Disord 1998; 8: 126–30. [Google Scholar]

[5] Tupler R, Berardinelli A, Barbierato L, et al. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet 1996; 33: 366–70. [Google Scholar]

[6] Tupler R, Perini G, Pellegrino MA, Green MR. Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy. Proc Natl Acad Sci USA 1999; 96: 12650–4. [Google Scholar]

[7] Gabellini D, Green M, Tupler R. Inappropriate gene activation in FSHD. A repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 2002; 110: 339–48. [Google Scholar]

[8] Kaukonen J, Juselius JK, Tiranti V, et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000; 289: 782–5. [Google Scholar]

[9] Napoli L, Bordoni A, Zeviani M, et al. A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. Neurology 2001; 57: 2295–8. [Google Scholar]