Associated Papers
Reducing body myopathy - A new pathogenic FHL1 variant and literature review.
Mota IA et al.
Neuromuscular Disorders : Nmd, 2021
FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy.
Hu Z et al.
Journal of Human Genetics, 2019
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
Malfatti E et al.
Journal of Neuropathology and Experimental Neurology, 2013
Genes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues.
Shathasivam T et al.
Journal of Cellular and Molecular Medicine, 2010
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
Gueneau L et al.
American Journal of Human Genetics, 2009
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
Schessl J et al.
Brain : a Journal of Neurology, 2009
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