title: Myopathy in hereditary leiomyomatosis and renal cell cancer in an extended family.
authors.affiliation: Department of Dermatology, University Clinic of Navarra, School of Medicine, University of Navarra, PO Box 4209, Pamplona, 31080, Navarra, Spain. aespana@unav.es.
authors.forename: A
authors.initials: A
authors.lastname: España
authors.affiliation: Department of Rheumatology, University Clinic of Navarra, School of Medicine, University of Navarra, PO Box 4209, Pamplona, 31080, Navarra, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Ornilla
authors.affiliation: Department of Genetics, University Clinic of Navarra, School of Medicine, University of Navarra, PO Box 4209, Pamplona, 31080, Navarra, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Zarate
authors.affiliation: Department of Oncology, University Clinic of Navarra, School of Medicine, University of Navarra, PO Box 4209, Pamplona, 31080, Navarra, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Gil-Bazo
authors.affiliation: IBC-Secció d'Errors Congènits del Metabolisme, Hospital Clínic, Consejo Superior de Investigaciones Científicas (CSIC) y Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
authors.forename: P
authors.initials: P
authors.lastname: Briones
mesh_terms: D000328:Adult; D005260:Female; D005649:Fumarate Hydratase / Q000172:deficiency / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D033162:Incidental Findings; D007680:Kidney Neoplasms / Q000235:genetics; D018231:Leiomyomatosis / Q000235:genetics*; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics; D009120:Muscle Cramp / Q000235:genetics; D018763:Muscle Fatigue / Q000235:genetics; D009135:Muscular Diseases / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D063806:Myalgia / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics*; D014594:Uterine Neoplasms / Q000235:genetics*
chemical_list: D005649:Fumarate Hydratase