Associated Papers
Metabolic, fibrotic and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy spectrum patients to differing degrees.
de Las Heras JI et al.
Human Molecular Genetics, 2023
Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.
San Román I et al.
Clinical Genetics, 2016
Adverse clinical course and poor prognosis of hypertrophic cardiomyopathy due to mutations in FHL1.
Gallego-Delgado M et al.
International Journal of Cardiology, 2015
FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation.
Wilding BR et al.
Journal of Cell Science, 2014
Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy.
Feldkirchner S et al.
Neuromuscular Disorders : Nmd, 2013
Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy.
Friedrich FW et al.
Human Molecular Genetics, 2012
Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy.
Cowling BS et al.
The Journal of Cell Biology, 2008
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
Windpassinger C et al.
American Journal of Human Genetics, 2008
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