title: A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.
authors.forename: E
authors.initials: E
authors.lastname: Jakkula
authors.forename: J
authors.initials: J
authors.lastname: Lohiniva
authors.forename: A
authors.initials: A
authors.lastname: Capone
authors.forename: L
authors.initials: L
authors.lastname: Bonafe
authors.forename: M
authors.initials: M
authors.lastname: Marti
authors.forename: V
authors.initials: V
authors.lastname: Schuster
authors.forename: A
authors.initials: A
authors.lastname: Giedion
authors.forename: G
authors.initials: G
authors.lastname: Eich
authors.forename: E
authors.initials: E
authors.lastname: Boltshauser
authors.forename: L
authors.initials: L
authors.lastname: Ala-Kokko
authors.forename: A
authors.initials: A
authors.lastname: Superti-Furga
mesh_terms: D019943:Amino Acid Substitution; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D064236:Cartilage Oligomeric Matrix Protein; D002648:Child; D024081:Collagen Type IX / Q000235:genetics; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D064235:Matrilin Proteins; D018908:Muscle Weakness / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011859:Radiography
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D024081:Collagen Type IX; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human