Universität zu Köln

Wang, Haicui, Castiglioni, Claudia ORCID: 0000-0002-1981-7550, Bayram, Ayse Kacar, Fattori, Fabiana ORCID: 0000-0002-1820-8489, Pekuz, Serdar, Araneda, Diego, Per, Huseyin, Erazo, Ricardo, Gumus, Hakan, Zorludemir, Suzan, Becker, Kerstin, Ortega, Ximena, Alfredo Bevilacqua, Jorge, Bertini, Enrico ORCID: 0000-0001-9276-4590 and Cirak, Sebahattin (2017). Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy. Neuromusc. Disord., 27 (9). S. 836 - 843. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

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Abstract

Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and type I fibre predominance in muscle biopsy. Myotubular myopathy, the X-linked form of CNM caused by mutations in the phosphoinositide phosphatase MTM1, is histologically characteristic since muscle fibres resemble myotubes. Here we present two unrelated patients with CNM and typical myotubular fibres in the muscle biopsy caused by mutations in striated muscle preferentially expressed protein kinase (SPEG). Next generation sequencing revealed novel biallelic homozygous mutations in SPEG in both cases. Patient 1 showed the c.1627_1628insA (p.Thr544Aspfs*48) mutation and patient 2 the c.9586C>T (p.Arg3196*) mutation. The clinical phenotype was distinctive in the two patients since patient 2 developed a dilated cardiomyopathy with milder myopathy features, while patient 1 showed only myopathic features without cardiac involvement. These findings expand the genotype phenotype correlations after the initial report. Additionally, we describe whole body muscle MRI of patient 2 and we argue on the different SPEG isoforms in skeletal muscle and heart as the possible explanation leading to variable phenotypes of SPEG mutations. (C) 2017 Elsevier B.V. All rights reserved.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Wang, Haicui UNSPECIFIED UNSPECIFIED UNSPECIFIED Castiglioni, Claudia UNSPECIFIED orcid.org/0000-0002-1981-7550 UNSPECIFIED Bayram, Ayse Kacar UNSPECIFIED UNSPECIFIED UNSPECIFIED Fattori, Fabiana UNSPECIFIED orcid.org/0000-0002-1820-8489 UNSPECIFIED Pekuz, Serdar UNSPECIFIED UNSPECIFIED UNSPECIFIED Araneda, Diego UNSPECIFIED UNSPECIFIED UNSPECIFIED Per, Huseyin UNSPECIFIED UNSPECIFIED UNSPECIFIED Erazo, Ricardo UNSPECIFIED UNSPECIFIED UNSPECIFIED Gumus, Hakan UNSPECIFIED UNSPECIFIED UNSPECIFIED Zorludemir, Suzan UNSPECIFIED UNSPECIFIED UNSPECIFIED Becker, Kerstin UNSPECIFIED UNSPECIFIED UNSPECIFIED Ortega, Ximena UNSPECIFIED UNSPECIFIED UNSPECIFIED Alfredo Bevilacqua, Jorge UNSPECIFIED UNSPECIFIED UNSPECIFIED Bertini, Enrico UNSPECIFIED orcid.org/0000-0001-9276-4590 UNSPECIFIED Cirak, Sebahattin UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-221045
DOI:	10.1016/j.nmd.2017.05.014
Journal or Publication Title:	Neuromusc. Disord.
Volume:	27
Number:	9
Page Range:	S. 836 - 843
Date:	2017
Publisher:	PERGAMON-ELSEVIER SCIENCE LTD
Place of Publication:	OXFORD
ISSN:	1873-2364
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GENE Multiple languages Clinical Neurology; Neurosciences Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/22104