title: X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.
abstract: 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. We describe a boy with a family history consistent with X-linked distal myopathy/cardiomyopathy. The boy first presented at age 14 years and was found to have distal wasting and weakness. Echocardiogram revealed hypertrophic cardiomyopathy. Muscle biopsy showed a vacuolar pathology with no reducing bodies. Sequencing of FHL1 revealed a novel hemizygous c.764G>C missense mutation in exon 8. This is the first report of a predominantly distal myopathy with hypertrophic cardiomyopathy occurring secondary to an FHL1 mutation.
authors.affiliation: Faculty of Medicine, Nursing and Health Sciences, Monash University, Victoria, Australia Department of Anatomical Pathology, The Alfred Hospital, Victoria, Australia coll.darcy@gmail.com.
authors.forename: Colleen
authors.initials: C
authors.lastname: D'Arcy
authors.affiliation: Applied Genetics Diagnostics, University of Melbourne, Melbourne, Australia.
authors.forename: Voula
authors.initials: V
authors.lastname: Kanellakis
authors.affiliation: Victorian Clinical Genetics Service, Royal Children's Hospital, Victoria, Australia.
authors.forename: Robin
authors.initials: R
authors.lastname: Forbes
authors.affiliation: Department of Biochemistry and Molecular Biology, Monash University, Victoria, Australia.
authors.forename: Brendan
authors.initials: B
authors.lastname: Wilding
authors.affiliation: Department of Biochemistry and Molecular Biology, Monash University, Victoria, Australia.
authors.forename: Meagan
authors.initials: M
authors.lastname: McGrath
authors.affiliation: Children's Neurosciences Centre, Royal Children's Hospital, Victoria, Australia.
authors.forename: Katherine
authors.initials: K
authors.lastname: Howell
authors.affiliation: Children's Neurosciences Centre, Royal Children's Hospital, Victoria, Australia.
authors.forename: Monique
authors.initials: M
authors.lastname: Ryan
authors.affiliation: Faculty of Medicine, Nursing and Health Sciences, Monash University, Victoria, Australia Department of Anatomical Pathology, The Alfred Hospital, Victoria, Australia.
authors.forename: Catriona
authors.initials: C
authors.lastname: McLean
mesh_terms: D000293:Adolescent; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000235:genetics*; D049310:Distal Myopathies / Q000150:complications / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics* / Q000378:metabolism; D060588:LIM Domain Proteins / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
chemical_list: C101149:FHL1 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D060588:LIM Domain Proteins; D009124:Muscle Proteins
keywords: FHL1 mutation; LIM domain; distal myopathy; hypertrophic cardiomyopathy; muscular dystrophy