|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel compound heterozygous PLEC mutations lead to early‑onset limb‑girdle muscular dystrophy 2Q.
|
28447722 |
2017 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PLEC gene analysis in a not previously reported 35-year-old EBS-MD patient with additional disease features of cardiomyopathy and malignant arrhythmias revealed novel compound heterozygous (p.(Phe755del) and p.(Lys1040Argfs*139)) mutations resulting in complete abolition of plectin protein expression.
|
27121971 |
2016 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation.
|
25454730 |
2015 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia.
|
25209331 |
2015 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
|
23289980 |
2013 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PLEC1 gene encoding plectin have been reported in neonatal epidermolysis bullosa simplex with muscular dystrophy of later-onset (EBS-MD).
|
20624679 |
2010 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.
|
20052759 |
2010 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Plectin gene defects lead to various forms of epidermolysis bullosa simplex.
|
19945614 |
2010 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Plectin gene defects lead to various forms of epidermolysis bullosa simplex.
|
19945614 |
2010 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In their model, SMaRT was able to replace a mutation of the plectin gene in epidermolysis bullosa simplex with muscular dystrophy.
|
18268535 |
2008 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Transient transfection of EBS-MD fibroblasts with a 5' pre-trans-splicing molecule encoding wild-type exons 2-9 led to specific replacement of the mutated 5' portion of the endogenous PLEC1 transcript through trans-splicing.
|
17989727 |
2008 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.
|
16967486 |
2007 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia.
|
15654962 |
2005 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation.
|
15206692 |
2004 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation.
|
14963703 |
2004 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic mutations in plectin, a cytoskeleton linker protein expressed in a large variety of tissues including skin, muscle, and nerves, cause epidermolysis bullosa simplex with muscular dystrophy, a recessive inherited disease characterized by blistering of the skin and late onset of muscular dystrophy, and Ogna epidermolysis bullosa simplex, a rare dominant inherited form of epidermolysis bullosa simplex with no muscular involvement.
|
14675180 |
2003 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Analysis of a 25-yr-old EBS-MD patient carrying a novel homozygous 16-bp insertion mutation (13803ins16/13803ins16) close to the intermediate filament (IF) binding site of plectin showed severe disorganization of the myogenic IF cytoskeleton.
|
12071635 |
2002 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.
|
10652002 |
2000 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
Biomarker
|
disease |
MGD |
Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture.
|
9389647 |
1997 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the human plectin gene have recently been associated with the autosomal recessive disorder epidermolysis bullosa simplex with muscular dystrophy.
|
9352221 |
1997 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions.
|
8830774 |
1996 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions.
|
8830774 |
1996 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study we demonstrate that in a MD-EBS kindred with two affected members, the disease results from a homozygous nonsense mutation in the plectin (PLEC1) gene leading to a premature stop codon (CGA to TGA) and decay of the aberrant plectin messenger RNA.
|
8941634 |
1996 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Homozygosity by descent was observed in the consanguineous MD-EBS family with intragenic plectin polymorphisms.
|
8698233 |
1996 |
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This year, the first mutations in a keratin-associated protein, plectin, were shown to cause a variant of epidermolysis bullosa associated with late-onset muscular dystrophy (MD-EBS).
|
9028791 |
1996 |