Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies.
Voermans
N C
NC
Jenniskens
G J
GJ
Hamel
B C
BC
Schalkwijk
J
J
Guicheney
P
P
van Engelen
B G
BG
D000328:Adult; D003286:Contracture / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006801:Humans; D018908:Muscle Weakness / Q000235:genetics*; D019063:Tenascin / Q000235:genetics*
D019063:Tenascin; C081865:tenascin X