Autosomal recessive inheritance of classic Bethlem myopathy.
about
Congenital muscular dystrophies: a brief reviewDiagnostic approach to the congenital muscular dystrophies.Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in 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 dystrophyMitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies.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?Flow cytometry analysis: a quantitative method for collagen VI deficiency screeningNatural history of pulmonary function in collagen VI-related myopathiesLarge genomic deletions: a novel cause of Ullrich congenital muscular dystrophyThe collagen VI-related myopathies: muscle meets its matrix.Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy.The ever-expanding spectrum of congenital muscular dystrophies.Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).Early onset collagen VI myopathies: Genetic and clinical correlations.Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.Bethlem myopathy: pregnancy and delivery.A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
P2860
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P2860
Autosomal recessive inheritance of classic Bethlem myopathy.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
2009年论文
@zh
2009年论文
@zh-cn
name
Autosomal recessive inheritance of classic Bethlem myopathy.
@en
type
label
Autosomal recessive inheritance of classic Bethlem myopathy.
@en
prefLabel
Autosomal recessive inheritance of classic Bethlem myopathy.
@en
P2093
P2860
P1476
Autosomal recessive inheritance of classic Bethlem myopathy.
@en
P2093
A Reghan Foley
Alexandra Columbus
Carsten G Bönnemann
Diane M Dunn
John Shoffner
Robert B Weiss
P2860
P304
P356
10.1016/J.NMD.2009.09.010
P577
2009-11-01T00:00:00Z