Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD
about
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan geneA 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.The 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 originsLimb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethoninMutations in the caveolin-3 gene: When are they pathogenic?Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophyGenetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.How the magnitude of clinical severity and recurrence risk affects reproductive decisions in adult males with different forms of progressive muscular dystrophy.Plasma membrane cytoskeleton of muscle: a fine structural analysis.Assignment of the tibial muscular dystrophy locus to chromosome 2q31.Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.Our trails and trials in the subsarcolemmal cytoskeleton network and muscular dystrophy researches in the dystrophin era.Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.The heart in limb girdle muscular dystrophy.A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 familiesLimb-girdle muscular dystrophies--from genetics to molecular pathology.Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex.Neuromuscular disorders: genes, genetic counseling and therapeutic trialsMolecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies.Finding the sweet spot: assembly and glycosylation of the dystrophin-associated glycoprotein complex.Costamere proteins and their involvement in myopathic processes.Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients.Further evidence for a fourth gene causing X-linked pure spastic paraplegia.Social adjustment in adult males affected with progressive muscular dystrophy.Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum
P2860
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P2860
Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունիսին 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
Linkage analysis in autosomal ...... st one more subtype of AR LGMD
@ast
Linkage analysis in autosomal ...... st one more subtype of AR LGMD
@en
Linkage analysis in autosomal ...... st one more subtype of AR LGMD
@nl
type
label
Linkage analysis in autosomal ...... st one more subtype of AR LGMD
@ast
Linkage analysis in autosomal ...... st one more subtype of AR LGMD
@en
Linkage analysis in autosomal ...... st one more subtype of AR LGMD
@nl
prefLabel
Linkage analysis in autosomal ...... st one more subtype of AR LGMD
@ast
Linkage analysis in autosomal ...... st one more subtype of AR LGMD
@en
Linkage analysis in autosomal ...... st one more subtype of AR LGMD
@nl
P2093
P3181
P356
P1476
Linkage analysis in autosomal ...... st one more subtype of AR LGMD
@en
P2093
E S Moreira
M R Passos-Bueno
P304
P3181
P356
10.1093/HMG/5.6.815
P407
P50
P577
1996-06-01T00:00:00Z