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Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyKelch proteins: emerging roles in skeletal muscle development and diseases.Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patientsDynamic regulation of sarcomeric actin filaments in striated muscleSamaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.An integrated diagnosis strategy for congenital myopathies.Oxidative capacity and fatigability in run-trained malignant hyperthermia-susceptible miceMutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicoresCongenital myopathy caused by a novel missense mutation in the CFL2 gene.Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.Consensus statement on standard of care for congenital myopathies.Novel excitation-contraction coupling related genes reveal aspects of muscle weakness beyond atrophy-new hopes for treatment of musculoskeletal diseasesMuscle-specific AMPK β1β2-null mice display a myopathy due to loss of capillary density in nonpostural muscles.Lack of Apobec2-related proteins causes a dystrophic muscle phenotype in zebrafish embryosRecessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice.Muscle biopsy.Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencingA Rare Case of Severe Congenital RYR1-Associated Myopathy
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 30 December 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Pathological defects in congenital myopathies.
@en
Pathological defects in congenital myopathies.
@nl
type
label
Pathological defects in congenital myopathies.
@en
Pathological defects in congenital myopathies.
@nl
prefLabel
Pathological defects in congenital myopathies.
@en
Pathological defects in congenital myopathies.
@nl
P1476
Pathological defects in congenital myopathies.
@en
P2093
Caroline A Sewry
P2860
P2888
P304
P356
10.1007/S10974-008-9155-8
P577
2008-12-30T00:00:00Z