Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
about
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VICollagen VI related muscle disordersA TALEN-Exon Skipping Design for a Bethlem Myopathy Model in ZebrafishA mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.Mechanical and electrophysiological properties of the sarcolemma of muscle fibers in two murine models of muscle dystrophy: col6a1-/- and mdxZebrafish models of collagen VI-related myopathiesNew molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors.Changes in muscle cell metabolism and mechanotransduction are associated with myopathic phenotype in a mouse model of collagen VI deficiency.Transcriptional profiling identifies differentially expressed genes in developing turkey skeletal muscleColVI myopathies: where do we stand, where do we go?Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathiesRespiratory involvement in inherited primary muscle conditions.COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathyBethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosisCollagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies.Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial.The collagen VI-related myopathies: muscle meets its matrix.Autosomal recessive inheritance of classic Bethlem myopathy.Collagen VI Null Mice as a Model for Early Onset Muscle Decline in Aging.Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy.Evidence of polygenic adaptation to high altitude from Tibetan and Sherpa genomes
P2860
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P2860
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
description
1999 nî lūn-bûn
@nan
1999 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
@ast
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
@en
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
@nl
type
label
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
@ast
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
@en
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
@nl
prefLabel
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
@ast
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
@en
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
@nl
P2093
P1433
P1476
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
@en
P2093
G J Jöbsis
M de Visser
P304
P407
P478
122 ( Pt 4)
P577
1999-04-01T00:00:00Z