Article
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.
Neuromuscular disorders : NMD - 1 Sept 2018
Ullmann Urielle, D'Argenzio Luigi, Mathur Shrey, Whyte Tamieka, Quinlivan Ros, Longman Cheryl, Farrugia Maria Elena, Manzur Adnan, Willis Tracey, Jungbluth Heinz, Pitt Matthew, Cirak Sebahattin, Feng Lucy, Stewart William, Mein Rachael, Phadke Rahul, Sewry Caroline, Sarkozy Anna, Muntoni Francesco
Abstract excerpt
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...
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