Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.
about
Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the NervesMyofibrillar myopathiesCompound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathyUnusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.The desmin coil 1B mutation K190A impairs nebulin Z-disc assembly and destabilizes actin thin filaments.Pregnancy in Desmin-Related CardiomyopathyDesminopathies: pathology and mechanisms.Myofibrillar myopathies.Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.Desmin-related myopathy.Desmin in muscle and associated diseases: beyond the structural function.Early signs of architectural and biomechanical failure in isolated myofibers and immortalized myoblasts from desmin-mutant knock-in miceMutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissueMolecular insights into cardiomyopathies associated with desmin (DES) mutations
P2860
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P2860
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.
description
2009 nî lūn-bûn
@nan
2009 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի մայիսին հրատարակված գիտական հոդված
@hy
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
name
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.
@ast
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.
@en
type
label
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.
@ast
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.
@en
prefLabel
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.
@ast
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.
@en
P2093
P2860
P1476
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.
@en
P2093
Alexey Shatunov
Ana Cabello
Feliciano J Ramos
Gerard Piñol-Ripoll
Iris de la Puerta
Juana Pelegrín
Lev G Goldfarb
Montse Olivé
Pilar Larrodé
P2860
P304
P356
10.1016/J.NMD.2009.04.004
P577
2009-05-09T00:00:00Z