A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.
Jakkula
E
E
Lohiniva
J
J
Capone
A
A
Bonafe
L
L
Marti
M
M
Schuster
V
V
Giedion
A
A
Eich
G
G
Boltshauser
E
E
Ala-Kokko
L
L
Superti-Furga
A
A
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
D064236:Cartilage Oligomeric Matrix Protein; D024081:Collagen Type IX; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human