title: Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
abstract: Mutations in the four and a half LIM protein 1 (FHL1) gene were recently identified as the cause of four distinct skeletal muscle diseases. Since the initial report outlining the first fhl1 mutation in 2008, over 25 different mutations have been identified in patients with reducing body myopathy, X-linked myopathy characterized by postural muscle atrophy, scapuloperoneal myopathy and Emery-Dreifuss muscular dystrophy. Reducing body myopathy was first described four decades ago, its underlying genetic cause was unknown until the discovery of fhl1 mutations. X-linked myopathy characterized by postural muscle atrophy is a novel disease where fhl1 mutations are the only cause. This review will profile each of the FHL1, with a comprehensive analysis of mutations, a comparison of the clinical and histopathological features and will present several hypotheses for the possible disease mechanism(s).
authors.affiliation: Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
authors.forename: Belinda S
authors.initials: BS
authors.lastname: Cowling
authors.forename: Denny L
authors.initials: DL
authors.lastname: Cottle
authors.forename: Brendan R
authors.initials: BR
authors.lastname: Wilding
authors.forename: Colleen E
authors.initials: CE
authors.lastname: D'Arcy
authors.forename: Christina A
authors.initials: CA
authors.lastname: Mitchell
authors.forename: Meagan J
authors.initials: MJ
authors.lastname: McGrath
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D005091:Exons / Q000235:genetics; D050172:Genes, X-Linked; D006331:Heart Diseases / Q000209:etiology / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D060588:LIM Domain Proteins; D054461:Lim Kinases / Q000235:genetics / Q000502:physiology; D009124:Muscle Proteins / Q000235:genetics*; D009134:Muscular Atrophy, Spinal / Q000235:genetics; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics; D009154:Mutation / Q000235:genetics* / Q000502:physiology; D011485:Protein Binding
chemical_list: C101149:FHL1 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D060588:LIM Domain Proteins; D009124:Muscle Proteins; D054461:Lim Kinases