title: Reducing body myopathy and other FHL1-related muscular disorders.
abstract: During the past 2 years, considerable progress in the field of four and a half LIM domain protein 1 (FHL1)-related myopathies has led to the identification of a growing number of FHL1 mutations. This genetic progress has uncovered crucial pathophysiological concepts, thus redefining clinical phenotypes. Important new characterizations include 4 distinct human myopathies: reducing body myopathy, X-linked myopathy with postural muscle atrophy, Emery-Dreifuss muscular dystrophy, and scapuloperoneal myopathy. Additionally, FHL1 mutations have been discovered in rigid spine syndrome and in a single family with contractures, rigid spine, and cardiomyopathy. In this review, we focus on the clinical phenotypes, which we correlate with the novel genetic and histological findings encountered within FHL1-related myopathies. This correlation will frequently lead to a considerably expanded clinical spectrum associated with a given FHL1 mutation.
authors.affiliation: Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians University of Munich, Germany. joachim.schessl@med.uni-muenchen.de
authors.forename: Joachim
authors.initials: J
authors.lastname: Schessl
authors.forename: Sarah
authors.initials: S
authors.lastname: Feldkirchner
authors.forename: Christiana
authors.initials: C
authors.lastname: Kubny
authors.forename: Benedikt
authors.initials: B
authors.lastname: Schoser
mesh_terms: D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D060588:LIM Domain Proteins / Q000235:genetics*; D059609:Mallory Bodies / Q000473:pathology; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009133:Muscular Atrophy / Q000235:genetics / Q000473:pathology; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009154:Mutation / Q000235:genetics; D012600:Scoliosis / Q000175:diagnosis
chemical_list: C101149:FHL1 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D060588:LIM Domain Proteins; D009124:Muscle Proteins