Free Access
Med Sci (Paris)
Volume 31, Novembre 2015
Les Cahiers de Myologie
Page(s) 34 - 38
Section Myologie dans le monde
Published online 06 November 2015
  1. Piccolo F, Jeanpierre M, Leturcq F, et al. A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly predating their migration out of India. Hum Mol Genet 1996 ; 5 : 2019–2022. [CrossRef] [PubMed] [Google Scholar]
  2. Abicht A, Stucka R, Karcagi V, et al. A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. Neurology 1999 ; 53 : 1564–1569. [CrossRef] [PubMed] [Google Scholar]
  3. Kalaydjieva L, Gresham D, Gooding R, et al. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet 2000 ; 67 : 47–58. [CrossRef] [PubMed] [Google Scholar]
  4. Varon R, Gooding R, Steglich C, et al. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet 2003 ; 35 : 185–189. [CrossRef] [PubMed] [Google Scholar]
  5. Cirak S, Tournev I, Herrmann R, et al. An autosomal recessive distal myopathy with cardiac involvement due to missense mutations in the kinase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Neuropediatrics 2005 ; 36–V3 (Congress abstract). [PubMed] [Google Scholar]
  6. Gooding R, Colomer J, King R, et al. A novel Gypsy founder mutation, pArg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. J Med Genet 2005 ; 42 : e69. [CrossRef] [PubMed] [Google Scholar]
  7. Hantke J, Chandler D, King R, et al. A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy-Russe (HMSNR). Eur J Hum Genet 2009 ; 17 : 1606–1614. [CrossRef] [PubMed] [Google Scholar]
  8. Chamova T, Guergueltcheva V, Gospodinova M, et al. GNE myopathy in Roma patients homozygous for the p. I618T founder mutation. Neuromuscul Disord 2015 ; 25 : 713–718. [CrossRef] [PubMed] [Google Scholar]

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