Article
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.
Journal of neurology, neurosurgery, and psychiatry - 1 Dec 2015
Deconinck N, Richard P, Allamand V, Behin A, Lafôret P, Ferreiro A, de Becdelievre A, Ledeuil C, Gartioux C, Nelson I, Carlier R Y, Carlier P, Wahbi K, Romero N, Zabot M T, Bouhour F, Tiffreau V, Lacour A, Eymard B, Stojkovic T
Abstract excerpt
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...
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