×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Muscular Dystrophies, Limb-Girdle
0.700
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 859
Gene Symbol: CAV3
CAV3
Muscular Dystrophies, Limb-Girdle
0.600
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 9499
Gene Symbol: MYOT
MYOT
Muscular Dystrophies, Limb-Girdle
0.600
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 6445
Gene Symbol: SGCG
SGCG
Muscular Dystrophies, Limb-Girdle
0.600
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
Muscular Dystrophies, Limb-Girdle
0.500
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
Muscular Dystrophies, Limb-Girdle
0.500
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32
Muscular Dystrophies, Limb-Girdle
0.470
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Muscular Dystrophies, Limb-Girdle
0.400
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
Muscular Dystrophies, Limb-Girdle
0.400
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
Muscular Dystrophies, Limb-Girdle
0.400
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
Muscular Dystrophies, Limb-Girdle
0.400
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
Muscular Dystrophies, Limb-Girdle
0.390
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
Muscular Dystrophies, Limb-Girdle
0.390
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
Muscular Dystrophies, Limb-Girdle
0.350
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
Muscular Dystrophies, Limb-Girdle
0.340
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
Muscular Dystrophies, Limb-Girdle
0.320
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 1674
Gene Symbol: DES
DES
Muscular Dystrophies, Limb-Girdle
0.600
Biomarker
GENOMICS_ENGLAND
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.
10545598 1999
×
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
Muscular Dystrophies, Limb-Girdle
0.300
Biomarker
GENOMICS_ENGLAND
Germline mutation in DOK7 associated with fetal akinesia deformation sequence.
19261599 2009
×
Entrez Id: 54344
Gene Symbol: DPM3
DPM3
Muscular Dystrophies, Limb-Girdle
0.320
Biomarker
GENOMICS_ENGLAND
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
19576565 2009
×
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
Muscular Dystrophies, Limb-Girdle
0.500
Biomarker
GENOMICS_ENGLAND
We have identified recessive mutations in ANO5 that result in a proximal limb-girdle muscular dystrophy (LGMD2L) in three French Canadian families and in a distal non-dysferlin Miyoshi myopathy (MMD3) in Dutch and Finnish families.
20096397 2010
×
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
Muscular Dystrophies, Limb-Girdle
0.450
Biomarker
GENOMICS_ENGLAND
In this article, we report the involvement of the ISPD gene in milder dystroglycanopathy phenotypes ranging from congenital muscular dystrophy to limb-girdle muscular dystrophy and identified allelic ISPD variants in nine cases belonging to seven families.
23288328 2013
×
Entrez Id: 10020
Gene Symbol: GNE
GNE
Muscular Dystrophies, Limb-Girdle
0.300
Biomarker
GENOMICS_ENGLAND
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
24695763 2014
×
Entrez Id: 55679
Gene Symbol: LIMS2
LIMS2
Muscular Dystrophies, Limb-Girdle
0.310
Biomarker
GENOMICS_ENGLAND
This is the first report of mutations in LIMS2 and resulting disruption of the integrin linked kinase (ILK)-LIMS-parvin complex associated with LGMD .
25589244 2015
×
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
Muscular Dystrophies, Limb-Girdle
0.300
Biomarker
GENOMICS_ENGLAND
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
25792100 2015