Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures (Q28142532): Difference between revisions

@@ label / nl / label / nl @@
+Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
@@ label / ast / label / ast @@
+Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
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+wetenschappelijk artikel (gepubliceerd in 1999-04)
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+vědecký článek publikovaný v roce 1999
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+научни чланак (објављен 1999-04)
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+scientific article (publication date:  April 1999)
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+مقالة علمية (نشرت في أبريل 1999)
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+artigo científico
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+թվականի ապրիլին հրատարակված գիտական հոդված
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+επιστημονικό άρθρο
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+vetenskaplig artikel
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+teaduslik artikkel
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+年論文
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+artículo científico publicado en 1999
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+artykuł naukowy
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+наукова стаття, опублікована у квітні 1999
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+artikull shkencor
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+wissenschaftlicher Artikel
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+სამეცნიერო სტატია
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+년 논문
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+թուականի Ապրիլին հրատարակուած գիտական յօդուած
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@@ Property / volume: 122 / rank @@
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+G. J. Jöbsis
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+congenital disorder
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+Bethlem myopathy
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@@ Property / main subject: Bethlem myopathy / reference @@
+based on heuristic: inferred from title
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+.1093/BRAIN/122.4.649
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+Further investigations on benign myopathy with autosomal dominant inheritance
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+stated in: Crossref
reference URL: https://api.crossref.org/works/10.1093%2FBRAIN%2F122.4.649
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+Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees
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+Structural and functional features of the alpha 3 chain indicate a bridging role for chicken collagen VI in connective tissues
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+Genetic localization of Bethlem myopathy
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+Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures
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+A Danish family with limb-girdle muscular dystrophy with autosomal dominant inheritance
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+Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy
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+Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin beta 1?
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+Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families
+Normal rank
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+Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37
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