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myopathy, distal
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antisense pathway
species not specified
one gene
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Genetics of Cardiovascular and Neuromuscular Disease
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MATR3
Molecular cloning of matrin 3. A 125-kilodalton protein of the nuclear matrix contains an extensive acidic domain
FLNC
Integration of cardiac proteome biology and medicine by a specialized knowledgebase
Structural and functional aspects of filamins
Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans
Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein
Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin
CAV3
Caveolin-3 deficiency causes muscle degeneration in mice
Mutations in the caveolin-3 gene: When are they pathogenic?
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle
Caveolin-3 in muscular dystrophy
DYSF
Caveolin regulates endocytosis of the muscle repair protein, dysferlin
Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p