Titre:
  • Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.
Auteur: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
Informations sur la publication:Journal of neurology, neurosurgery and psychiatry, 86, 12, page (1337-1346)
Statut de publication:Publié, 2015-12
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:COLLAGEN
GENETICS
MYOPATHY
NEUROMUSCULAR
MeSH keywords:Adolescent
Adult
Age of Onset
Aging
Biopsy
Child
Child, Preschool
Cohort Studies
Collagen Type VI -- genetics
Contracture -- genetics -- pathology
Disease Progression
Exons -- genetics
Female
Follow-Up Studies
Genotype
Humans
Magnetic Resonance Imaging
Male
Muscle Weakness -- etiology
Muscular Dystrophies -- congenital -- genetics -- pathology
Mutation
Mutation, Missense -- genetics
Neurologic Examination
Phenotype
Retrospective Studies
Tomography, X-Ray Computed
Young Adult
Langue:Anglais
Identificateurs:urn:issn:0022-3050
info:doi/10.1136/jnnp-2013-307245
info:pii/jnnp-2013-307245
info:pmid/25535305