Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
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Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophyCongenital muscular dystrophies: a brief reviewDiagnostic approach to the congenital muscular dystrophies.Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.Zebrafish models of collagen VI-related myopathiesWhole-genome sequencing and the clinician: a tale of two citiesThe collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophyCharacterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report.Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.ColVI myopathies: where do we stand, where do we go?Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosisCongenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.Consensus statement on standard of care for congenital muscular dystrophies.The collagen VI-related myopathies: muscle meets its matrix.Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.The collagenopathies: review of clinical phenotypes and molecular correlations.Skeletal muscle fibroblasts in health and disease.Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII.Early onset collagen VI myopathies: Genetic and clinical correlations.Hedgehog signaling and laminin play unique and synergistic roles in muscle development.Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
P2860
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P2860
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on September 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
@en
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
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type
label
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
@en
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
@nl
prefLabel
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
@en
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
@nl
P2093
P2860
P50
P356
P1433
P1476
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
@en
P2093
David Mowat
Kathryn N North
Laura Zamurs
Matthias Mörgelin
Melita Irving
Naomi E Adams
Naomi L Baker
Nicholas J C Smith
Phillipa J Lamont
Rachel A Peat
P2860
P304
P356
10.1002/ANA.21439
P577
2008-09-01T00:00:00Z