부산대학교 도서관

Highlights • Recessive mutations in the ECEL1 gene cause heterogeneous contractural phenotypes. • We describe 7 novel patients from 4 unrelated families with ECEL1 gene mutations. • We provide long-term clinical follow-up for 4 patients with ECEL1 gene mutations. • We observed myopathic features, core-like areas and nCAM positive fibres on histopathology. • We provide novel pathomechanical insights into ECEL1 gene related conditions. Abstract Autosomal recessive mutations in the ECEL1 gene have recently been associated with a wide phenotypic spectrum including severe congenital contractural syndromes and distal arthrogryposis type 5D (DA5D). Here, we describe four novel families with ECEL1 gene mutations, reporting 15 years of follow-up for four patients and detailed muscle pathological description for three individuals. In particular, we observed mild myopathic features, prominent core-like areas in one individual, and presence of nCAM positive fibres in three patients from 2 unrelated families suggesting a possible problem with innervation. Our findings expand current knowledge concerning the phenotypic and pathological spectrum associated with ECEL1 gene mutations and may suggest novel insights regarding the underlying pathomechanism of the disease. [ABSTRACT FROM AUTHOR]