Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients

FASEB Journal

Volumn 28, Issue 11, 2014, Pages 4668-4676

  Nielsen, Rie Harboe ^a,b   Couppé, Christian ^a   Jensen, Jacob Kildevang ^a,b   Olsen, Morten Raun ^a,b   Heinemeier, Katja Maria ^a,b   Malfait, Fransiska ^c   Symoens, Sofie ^c   De Paepe, Anne ^c   Schjerling, Peter ^a,b   Magnusson, Stig Peter ^a   Remvig, Lars ^d   Kjaer, Michael ^a,b  

^a BISPEBJERG HOSPITAL   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d Rigshospitalet   (Denmark)

Author keywords

Cauliflower fibrils; Muscle; Null allele analysis

Indexed keywords

COLLAGEN TYPE 5; COL5A1 PROTEIN, HUMAN;

ADULT; ARTICLE; BENIGN JOINT HYPERMOBILITY SYNDROME; BODY WEIGHT; CLINICAL ARTICLE; COLLAGEN FIBRIL; CONTROLLED STUDY; ECHOGRAPHY; EHLERS DANLOS SYNDROME; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; ISOMETRICS; JOINT LAXITY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OUTCOME ASSESSMENT; PATELLA TENDON; PHYSICAL ACTIVITY; RIGIDITY; TENDON STIFFNESS; TRANSMISSION ELECTRON MICROSCOPY; ULTRASTRUCTURE; YOUNG MODULUS; AGED; EHLERS-DANLOS SYNDROME; GENETIC PREDISPOSITION; GENETICS; JOINT INSTABILITY; METABOLISM; MIDDLE AGED; MUTATION; PATHOPHYSIOLOGY; PROCEDURES; TENDON; YOUNG ADULT;

BRASSICA OLERACEA VAR. BOTRYTIS;

ADULT; AGED; COLLAGEN TYPE V; DNA MUTATIONAL ANALYSIS; EHLERS-DANLOS SYNDROME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; JOINT INSTABILITY; MALE; MIDDLE AGED; MUTATION; TENDONS; YOUNG ADULT;

EID: 84912143485     PISSN: 08926638     EISSN: 15306860     Source Type: Journal    
DOI: 10.1096/fj.14-249656     Document Type: Article

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