Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation (CROSBI ID 275451)
Prilog u časopisu | prikaz, osvrt, kritika | međunarodna recenzija
Podaci o odgovornosti
Čulić, Vida ; Miyake, Noriko ; Janković, Sunčana ; Petrović, Davor ; Šimunović, Marko ; Đapić, Tomislav ; Shiina, Masaaki ; Ogata, Kazuhiro ; Matsumoto, Naomichi ;
engleski
Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation
Distal arthrogryposis (DA) is a clinically and genetically heterogeneous disorder with multiple joint contractures. We describe a female DA patient with hand and foot deformities, and right-sided torticollis. Using exome sequencing, we identified a novel TNNI2 mutation (c.485>A, p.Arg162Lys) in the patient and her father. The father has no typical DA but hip dysplasia. This may explain the clinical features of DA2B in this family, but with variable clinical expression.
Distal arthrogryposis ; children ;
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