title: Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis.
abstract: Rarely, inflammation can be present in genetic myopathies, such as dysferlinopathies, facioscapulohumeral muscular dystrophy and GNE-myopathy (hereditary inclusion body myopathy). This may lead to erroneous initial diagnosis and unnecessary therapy which bear serious side effects. We report on an unusual case of mutations in the TTN gene presenting with inflammatory infiltrates in the muscle biopsy. Only after intensive immune-modulating therapies failed, a genetic myopathy was considered. Exome sequencing and search for mutated muscle protein-encoding genes disclosed compound heterozygous mutations in TTN: K26320T and A6135G. The parents carry one each of the mutations. Titinopathy could be considered also in patients presenting with inflammatory infiltrates resistant to therapy.
authors.affiliation: Department of Neurology, Edith Wolfson Medical Center, Holon, affiliated with Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: ronda@post.tau.ac.il.
authors.forename: Ron
authors.initials: R
authors.lastname: Dabby
authors.affiliation: Department of Neurology, Edith Wolfson Medical Center, Holon, affiliated with Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Menachem
authors.initials: M
authors.lastname: Sadeh
authors.affiliation: Radcliffe Infirmary, Woodstock Road, Oxford, United Kingdom.
authors.forename: David
authors.initials: D
authors.lastname: Hilton-Jones
authors.affiliation: National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, USA.
authors.forename: Paul
authors.initials: P
authors.lastname: Plotz
authors.affiliation: Folkhalsan Institute of Genetics, Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
authors.forename: Peter
authors.initials: P
authors.lastname: Hackman
authors.affiliation: Folkhalsan Institute of Genetics, Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
authors.forename: Anna
authors.initials: A
authors.lastname: Vihola
authors.affiliation: Folkhalsan Institute of Genetics, Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland; Department of Neurology, Vasa Central Hospital, Vasa, Finland.
authors.forename: Bjarne
authors.initials: B
authors.lastname: Udd
authors.affiliation: Department of Molecular Genetic Laboratory, Edith Wolfson Medical Center, Holon, affiliated with Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Esther
authors.initials: E
authors.lastname: Leshinsky-Silver
mesh_terms: D000328:Adult; D017668:Age of Onset; D064211:Connectin / Q000235:genetics*; D006801:Humans; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis* / Q000235:genetics*; D009220:Myositis / Q000175:diagnosis
chemical_list: D064211:Connectin; C577285:TTN protein, human
keywords: Inflammatory myopathy; LGMD2J; Muscular dystrophy; Titin