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Bethlem myopathy: long-term follow-up ...
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Document type :
Article dans une revue scientifique
DOI :
10.1136/jnnp-2013-307245
PMID :
25535305
Permalink :
http://hdl.handle.net/20.500.12210/12274
Title :
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution
Author(s) :
Deconinck, Nicolas [Auteur]
Richard, Pascale [Auteur]
Allamand, V. [Auteur]
Behin, A. [Auteur]
Laforêt, Pascal [Auteur]
Ferreiro, Ana [Auteur]
De Becdelievre, A. [Auteur]
Ledeuil, C. [Auteur]
Gartioux, C. [Auteur]
Nelson, Isabelle [Auteur]
Carlier, R. Y. [Auteur]
Carlier, P. [Auteur]
Wahbi, Karim [Auteur]
Romero, Norma [Auteur]
Zabot, M. T. [Auteur]
Bouhour, Françoise [Auteur]
Tiffreau, Vincent [Auteur] refId
Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369
Lacour, Arnaud [Auteur]
Eymard, Bruno [Auteur]
Stojkovic, Tanya [Auteur]
Journal title :
Journal of neurology, neurosurgery, and psychiatry
Abbreviated title :
J. Neurol. Neurosurg. Psychiatry
Volume number :
86
Pages :
1337-1346
Publication date :
2015-12-01
ISSN :
0022-3050
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
OBJECTIVE: 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 ...
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OBJECTIVE: 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. METHODS: We retrospectively evaluated the long-term clinical evolution, and genotype-phenotype correlations in 35 genetically identified BM patients (23 index cases). RESULTS: Nineteen patients showed a typical clinical picture with contractures, proximal weakness and slow disease progression while 11 presented a more severe evolution. Five patients showed an atypical presentation, namely a limb girdle muscle weakness in 2 and a congenital myopathy pattern with either no contractures, or only limited to ankles, in 3 of them. Pathogenic COL6A1-3 mutations were mostly missense or in frame exon-skipping resulting in substitutions or deletions. Twenty one different mutations were identified including 12 novel ones. The mode of inheritance was, autosomal dominant in 83% of the index patients (including 17% (N=4) with a de novo mutation), recessive in 13%, and undetermined in one patient. Skipping of exon 14 of COL6A1 was found in 35% of index cases and was mostly associated with a severe clinical evolution. Missense mutations were detected in 39% of index cases and associated with milder forms of the disease. CONCLUSIONS: Long-term follow-up identified important phenotypic variability in this cohort of 35 BM patients. However, worsening of the functional disability appeared typically after the age of 40 in 47% of our patients, and was frequently associated with COL6A1 exon 14 skipping.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
Univ. Littoral Côte d’Opale
Univ. Artois
Université de Lille
Collections :
  • Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369
Research team(s) :
Activité Physique, Muscle, Santé (APMS)
Submission date :
2019-09-24T10:01:59Z
Université de Lille

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