par Deconinck, Nicolas 
;Richard, P.;Allamand, Valérie;Behin, A;Lafôret, P;Ferreiro, A;de Becdelievre, A;Ledeuil, C;Gartioux, C;Nelson, I;Carlier, Robert Yves;Carlier, P;Wahbi, K;Romero, N;Zabot, M T;Bouhour, F;Tiffreau, V;Lacour, A;Eymard, B;Stojkovic, Tanya
Référence Journal of neurology, neurosurgery and psychiatry, 86, 12, page (1337-1346)
Publication Publié, 2015-12
;Richard, P.;Allamand, Valérie;Behin, A;Lafôret, P;Ferreiro, A;de Becdelievre, A;Ledeuil, C;Gartioux, C;Nelson, I;Carlier, Robert Yves;Carlier, P;Wahbi, K;Romero, N;Zabot, M T;Bouhour, F;Tiffreau, V;Lacour, A;Eymard, B;Stojkovic, TanyaRéférence Journal of neurology, neurosurgery and psychiatry, 86, 12, page (1337-1346)
Publication Publié, 2015-12
Article révisé par les pairs
| Résumé : | Mutations in one of the 3 genes encoding collagen VI (COLVI) are responsible for a group of heterogeneous phenotypes of which Bethlem myopathy (BM) represents the milder end of the spectrum. Genotype-phenotype correlations and long-term follow-up description in BM remain scarce. |
