Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
about
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cellsIndications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilinCalsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteinsFunctional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2AMutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathymyotilin Mutation found in second pedigree with LGMD1AFilamin 2 (FLN2): A muscle-specific sarcoglycan interacting proteinCandidate-gene testing for orphan limb-girdle muscular dystrophiesThe seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical originsDisruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutationsMolecular organization of sarcoglycan complex in mouse myotubes in cultureAnalysis of human sarcospan as a candidate gene for CFEOM1Muscle regeneration in dystrophin-deficient mdx mice studied by gene expression profilingGenetic Engineering of Dystroglycan in Animal Models of Muscular DystrophyThe potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophyProteomic profiling of the dystrophin-deficient mdx phenocopy of dystrophinopathy-associated cardiomyopathyTime-lapse analysis and mathematical characterization elucidate novel mechanisms underlying muscle morphogenesisDisease rescue and increased lifespan in a model of cardiomyopathy and muscular dystrophy by combined AAV treatmentsExpression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complexSarcoglycan isoforms in skeletal muscleLimb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethoninrAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophyMutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathyDystrophin-glycoprotein complex and Ras and Rho GTPase signaling are altered in muscle atrophyFilamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibresPrevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sarcospan complexSMAD signaling drives heart and muscle dysfunction in a Drosophila model of muscular dystrophyGait disturbances in dystrophic hamsters.Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Ca2+ overload and mitochondrial permeability transition pore activation in living delta-sarcoglycan-deficient cardiomyocytes.Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.Making sense of the limb-girdle muscular dystrophies.Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complexHomozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.Limb-girdle Muscular Dystrophies in India: A Review.Limb-girdle and congenital muscular dystrophies: current diagnostics, management, and emerging technologies.
P2860
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P2860
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
description
1996 nî lūn-bûn
@nan
1996 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Autosomal recessive limb-girdl ...... in the delta-sarcoglycan gene
@ast
Autosomal recessive limb-girdl ...... in the delta-sarcoglycan gene
@en
Autosomal recessive limb-girdl ...... in the delta-sarcoglycan gene
@en-gb
Autosomal recessive limb-girdl ...... in the delta-sarcoglycan gene
@nl
type
label
Autosomal recessive limb-girdl ...... in the delta-sarcoglycan gene
@ast
Autosomal recessive limb-girdl ...... in the delta-sarcoglycan gene
@en
Autosomal recessive limb-girdl ...... in the delta-sarcoglycan gene
@en-gb
Autosomal recessive limb-girdl ...... in the delta-sarcoglycan gene
@nl
prefLabel
Autosomal recessive limb-girdl ...... in the delta-sarcoglycan gene
@ast
Autosomal recessive limb-girdl ...... in the delta-sarcoglycan gene
@en
Autosomal recessive limb-girdl ...... in the delta-sarcoglycan gene
@en-gb
Autosomal recessive limb-girdl ...... in the delta-sarcoglycan gene
@nl
P2093
P50
P921
P3181
P356
P1433
P1476
Autosomal recessive limb-girdl ...... in the delta-sarcoglycan gene
@en
P2093
E de Sá Moreira
L Politano
M R Passos-Bueno
P2860
P2888
P3181
P356
10.1038/NG1096-195
P407
P577
1996-10-01T00:00:00Z
P6179
1042311547