MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Four and a half LIM domain protein signaling and cardiomyopathy.
|
29926425 |
2018 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.
|
26857240 |
2016 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
FHL1 gene mutations are associated with reducing body myopathy, X-linked myopathy with postural muscle atrophy, scapuloperoneal myopathy, Emery-Dreifuss muscular dystrophy, and isolated hypertrophic cardiomyopathy.
|
25246303 |
2015 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, SPM and XMPMA FHL1 mutants retarded myotube formation relative to vector control, consistent with a dominant-negative or toxic function.
|
24634512 |
2014 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
X-linked myopathy with postural muscle atrophy is a novel X-linked myopathy caused by mutations in the four-and-a-half LIM domain 1 gene (FHL1).
|
22923418 |
2012 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.
|
22923418 |
2012 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the FHL1 gene are causative for several types of hereditary myopathies including X-linked myopathy with postural muscle atrophy (XMPMA).
|
22053194 |
2011 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
FHL1 mutations cause Emery-Dreifuss muscular dystrophy (OMIM 310300), X-linked myopathy with postural muscle atrophy (XMPMA, OMIM 300696), scapuloperoneal myopathy (OMIM 300695), or reducing body myopathy (OMIM 300717, 300718).
|
21932316 |
2011 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
|
20186852 |
2010 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
|
19716112 |
2009 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
As a consequence of C terminal FHL1 gene mutations, the X-linked myopathy characterized by postural muscle atrophy (XMPMA) phenotype and morphotype with cytoplasmic bodies are found.
|
19687455 |
2009 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
|
19716112 |
2009 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
As a consequence of C terminal FHL1 gene mutations, the X-linked myopathy characterized by postural muscle atrophy (XMPMA) phenotype and morphotype with cytoplasmic bodies are found.
|
19687455 |
2009 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
As a consequence of C terminal FHL1 gene mutations, the X-linked myopathy characterized by postural muscle atrophy (XMPMA) phenotype and morphotype with cytoplasmic bodies are found.
|
19687455 |
2009 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
As a consequence of C terminal FHL1 gene mutations, the X-linked myopathy characterized by postural muscle atrophy (XMPMA) phenotype and morphotype with cytoplasmic bodies are found.
|
19687455 |
2009 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Four-and-a-half LIM domain 1 gene (FHL1) has recently been identified as the causative gene for reducing body myopathy (RBM), X-linked scapuloperoneal myopathy (SPM) and X-linked myopathy with postural muscle atrophy (XMPMA).
|
18952429 |
2008 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
|
18179888 |
2008 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
Biomarker
|
disease |
BEFREE |
In summary, we have to our knowledge characterized a new disorder, X-linked myopathy with postural muscle atrophy (XMPMA), and identified FHL1 as the causative gene.
|
18179888 |
2008 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
|
18179888 |
2008 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
|
18179888 |
2008 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
0.780 |
Biomarker
|
disease |
CTD_human |
|
|
|