Sort   by:  
 Page size 
UnknownMyofibrillar myopathies.
Not available
S-EPMC3052736 | biostudies-literature
ProteomicsHomozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation
Filamin C is mainly expressed in striated muscle cells where it localizes to Z-discs, myotendinous junctions and intercalated discs. Recent studies have revealed numerous mutations in the FLNC gene causing familiar and sporadic myopathies and cardiomyopathies with marked clinical variability. The mo...
ORGANISM(S): Mus musculus (Mouse) 
2020-09-09 | PXD020097 | Pride
Lasermicrodissection Myofibrillar myopathies Filaminc Neuromuscular disorders Proteomics 
UnknownDistinct muscle imaging patterns in myofibrillar myopathies.
Not available
S-EPMC2583436 | biostudies-literature
UnknownEvaluation of aggrephagy markers in myofibrillar myopathies.
Not available
S-EPMC12102939 | biostudies-literature
ProteomicsFirst Clinical and Myopathological Description of a Myofibrillar Myopathy with Congenital Onset and Homozygous Mutation in FLNC
Filamin C (encoded by the FLNC gene) is a large actin-cross-linking protein involved in shaping the actin cytoskeleton in response to signaling events both at the sarcolemma and at myofibrillar Z-discs of cross-striated muscle cells. Multiple mutations in FLNC are associated with myofibrillar myopat...
ORGANISM(S): Homo sapiens (Human) 
2020-07-24 | PXD016657 | Pride
Filamin c  congenital myopathy  myofibrillar myopathy  flnc  proteomic signature  recessive inheritance 
UnknownDistal myopathies.
Not available
S-EPMC4109660 | biostudies-literature
UnknownAn Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Not available
S-EPMC8392536 | biostudies-literature
UnknownA novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy.
Not available
S-EPMC7869515 | biostudies-literature
UnknownMitochondrial dysfunction in myofibrillar myopathy.
Not available
S-EPMC5066370 | biostudies-literature
UnknownCharacterisation of phenotypic patterns in equine exercise-associated myopathies.
Not available
S-EPMC11807944 | biostudies-literature
Sort   by:  
 Page size