×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
0.920
Biomarker
GENOMICS_ENGLAND
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
0.920
GeneticVariation
BEFREE
Missense mutations were found in 14 patients (82%) with EDMD2 and 14 patients (78%) with MDCL compared to 17 patients (45%) with LGMD1B and 4 (67%) atypical patients.
25274841
2014
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
0.920
Biomarker
MGD
DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.
22090424
2012
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
0.920
GeneticVariation
BEFREE
LMNA-related congenital muscular dystrophy (L-CMD ) is a recently described disorder characterized by infantile-onset myopathy due to mutations in the lamin A/C (LMNA ) gene.
20886652
2010
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
0.920
Biomarker
GENOMICS_ENGLAND
The genetics of dilated cardiomyopathy.
20186049
2010
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
0.920
GermlineCausalMutation
ORPHANET
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
18551513
2008
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
0.920
GeneticVariation
UNIPROT
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
18551513
2008
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
0.920
Biomarker
GENOMICS_ENGLAND
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
11799477
2002
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
0.920
GeneticVariation
CLINVAR
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
0.920
Biomarker
CTD_human
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
0.920
CausalMutation
CLINVAR
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
0.920
Biomarker
GENOMICS_ENGLAND