Ullmann, Urielle, D'Argenzio, Luigi ORCID: 0000-0003-4001-2914, Mathur, Shrey, Whyte, Tamieka, Quinlivan, Ros, Longman, Cheryl, Farrugia, Maria Elena, Manzur, Adnan, Willis, Tracey, Jungbluth, Heinz ORCID: 0000-0002-7159-3427, Pitt, Matthew, Cirak, Sebahattin, Feng, Lucy, Stewart, William, Mein, Rachael, Phadke, Rahul, Sewry, Caroline, Sarkozy, Anna and Muntoni, Francesco (2018). ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects. Neuromusc. Disord., 28 (9). S. 741 - 750. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Full text not available from this repository.

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 (DASD). 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. (C) 2018 Elsevier B.V. All rights reserved.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Ullmann, UrielleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
D'Argenzio, LuigiUNSPECIFIEDorcid.org/0000-0003-4001-2914UNSPECIFIED
Mathur, ShreyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Whyte, TamiekaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Quinlivan, RosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Longman, CherylUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Farrugia, Maria ElenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Manzur, AdnanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Willis, TraceyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jungbluth, HeinzUNSPECIFIEDorcid.org/0000-0002-7159-3427UNSPECIFIED
Pitt, MatthewUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cirak, SebahattinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Feng, LucyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stewart, WilliamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mein, RachaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Phadke, RahulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sewry, CarolineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sarkozy, AnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Muntoni, FrancescoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-174221
DOI: 10.1016/j.nmd.2018.05.012
Journal or Publication Title: Neuromusc. Disord.
Volume: 28
Number: 9
Page Range: S. 741 - 750
Date: 2018
Publisher: PERGAMON-ELSEVIER SCIENCE LTD
Place of Publication: OXFORD
ISSN: 1873-2364
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
ARTHROGRYPOSIS TYPE 5D; INDUCED NEURONAL ENDOPEPTIDASE; ENDOTHELIN-CONVERTING ENZYME; DISTAL ARTHROGRYPOSIS; MUTATIONS; FAMILIES; DAMAGE; FORMMultiple languages
Clinical Neurology; NeurosciencesMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/17422

Downloads

Downloads per month over past year

Altmetric

Export

Actions (login required)

View Item View Item