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Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

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

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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