×
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
Neuromuscular Diseases
0.140
CausalMutation
CLINVAR
×
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
Neuromuscular Diseases
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Neuromuscular Diseases
0.100
CausalMutation
CLINVAR
165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.
19477645 2009
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Neuromuscular Diseases
0.150
GeneticVariation
CLINVAR
A novel mutation in a large French-Canadian family with LGMD1B.
18714801 2008
×
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Neuromuscular Diseases
0.100
CausalMutation
CLINVAR
A rare mutation in MYH7 gene occurs with overlapping phenotype.
25576864 2015
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
CausalMutation
CLINVAR
A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.
19645060 2009
×
Entrez Id: 1674
Gene Symbol: DES
DES
Neuromuscular Diseases
0.130
GeneticVariation
CLINVAR
A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.
20696008 2011
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
GeneticVariation
CLINVAR
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
25637381 2015
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Neuromuscular Diseases
0.150
GeneticVariation
CLINVAR
An alternative splicing product of the lamin A/C gene lacks exon 10.
8621584 1996
×
Entrez Id: 2010
Gene Symbol: EMD
EMD
Neuromuscular Diseases
0.120
CausalMutation
CLINVAR
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.
1998333 1991
×
Entrez Id: 2010
Gene Symbol: EMD
EMD
Neuromuscular Diseases
0.120
CausalMutation
CLINVAR
Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease.
1178008 1975
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
CausalMutation
CLINVAR
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
22473935 2012
×
Entrez Id: 2010
Gene Symbol: EMD
EMD
Neuromuscular Diseases
0.120
CausalMutation
CLINVAR
Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred.
17355552 2007
×
Entrez Id: 1674
Gene Symbol: DES
DES
Neuromuscular Diseases
0.130
GeneticVariation
CLINVAR
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.
23815709 2013
×
Entrez Id: 1674
Gene Symbol: DES
DES
Neuromuscular Diseases
0.130
GeneticVariation
CLINVAR
Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy.
19716701 2009
×
Entrez Id: 1674
Gene Symbol: DES
DES
Neuromuscular Diseases
0.130
GeneticVariation
CLINVAR
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
10717012 2000
×
Entrez Id: 1674
Gene Symbol: DES
DES
Neuromuscular Diseases
0.130
GeneticVariation
CLINVAR
Desmin myopathy.
14724127 2004
×
Entrez Id: 1674
Gene Symbol: DES
DES
Neuromuscular Diseases
0.130
GeneticVariation
CLINVAR
Desmin splice variants causing cardiac and skeletal myopathy.
11073539 2000
×
Entrez Id: 11155
Gene Symbol: LDB3
LDB3
Neuromuscular Diseases
0.100
CausalMutation
CLINVAR
Distinct muscle imaging patterns in myofibrillar myopathies.
18765652 2008
×
Entrez Id: 2010
Gene Symbol: EMD
EMD
Neuromuscular Diseases
0.120
CausalMutation
CLINVAR
Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy.
10220866 1999
×
Entrez Id: 2010
Gene Symbol: EMD
EMD
Neuromuscular Diseases
0.120
GeneticVariation
CLINVAR
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.
18646565 2007
×
Entrez Id: 2010
Gene Symbol: EMD
EMD
Neuromuscular Diseases
0.120
CausalMutation
CLINVAR
Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia.
7294729 1981
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Neuromuscular Diseases
0.150
GeneticVariation
CLINVAR
Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.
24915601 2014
×
Entrez Id: 11155
Gene Symbol: LDB3
LDB3
Neuromuscular Diseases
0.100
CausalMutation
CLINVAR
Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin.
28349680 2017
×
Entrez Id: 2010
Gene Symbol: EMD
EMD
Neuromuscular Diseases
0.120
CausalMutation
CLINVAR
Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.
10382909 1999