×
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:
1605
Gene Symbol:
DAG1
DAG1
Muscular Dystrophies, Limb-Girdle
0.500
Biomarker
GENOMICS_ENGLAND
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.
30055862
2018
×
Entrez Id:
9987
Gene Symbol:
HNRNPDL
HNRNPDL
Muscular Dystrophies, Limb-Girdle
0.450
Biomarker
GENOMICS_ENGLAND
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.
30055862
2018
×
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:
84197
Gene Symbol:
POMK
POMK
Muscular Dystrophies, Limb-Girdle
0.320
Biomarker
GENOMICS_ENGLAND
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy -dystroglycanopathy in a sib pair.
29910097
2018
×
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
×
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:
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:
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