125th ENMC International Workshop: Neuromuscular Disorders in the Roma (Gypsy) Population, 23–25 April 2004, Naarden, The Netherlands
2004; Elsevier BV; Volume: 15; Issue: 1 Linguagem: Inglês
10.1016/j.nmd.2004.09.008
ISSN1873-2364
AutoresLuba Kalaydjieva, Hanns Lochmüller, Ivailo Tournev, Frank Baas, Judit Béres, J. Colomer, Velina Guergueltcheva, Ralf Herrmann, Veronika Karcagi, R. H. M. King, Toshiyuki Miyata, Andrea Müllner-Eidenböck, Tomohiko Okuda, Vedrana Milić Rašić, Manuela Santos, Beril Talim, Juan J. Vílchez, Maggie C. Walter, Andoni Urtizberea, Luciano Merlini,
Tópico(s)Congenital limb and hand anomalies
ResumoThe 125th ENMC International Workshop was a follow-up on the previous ENMC Workshop on Neuromuscular Disorders in Gypsies, which took place in March 2001. The unique feature of both meetings was their focus on a specific population, rather than on a specific disease, and on the contribution of this population to our general understanding of neuromuscular pathology. In the 7 years that followed the first reports on neuromuscular disorders (NMDs) in Gypsies [1,2], growing interest has resulted in over 40 publications, describing novel disorders, founder mutations, and genotype–phenotype correlations.
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