Universität zu Köln

Chamova, Teodora, Guergueltcheva, Velina, Gospodinova, Mariana, Krause, Sabine ORCID: 0000-0002-3141-886X, Cirak, Sebahattin, Kaprelyan, Ara, Angelova, Lyudmila, Mihaylova, Violeta, Bichev, Stoyan, Chandler, David, Naydenov, Emanuil, Grudkova, Margarita, Djukmedzhiev, Presian, Voit, Thomas, Pogoryelova, Oksana, Lochmueller, Hanns, Goebel, Hans H., Bahlo, Melanie ORCID: 0000-0001-5132-0774, Kalaydjieva, Luba and Tournev, Ivailo (2015). GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. Neuromusc. Disord., 25 (9). S. 713 - 719. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

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Abstract

GNE myopathy is an autosomal-recessive disorder caused by mutations in the GNE gene, encoding the key enzyme in the sialic acid biosynthetic pathway, UDP-N-acetylglucosamine 2-epimerase/N-acetyl mannosamine kinase. We studied 50 Bulgarian Roma patients homozygous for p.I618T, an ancient founder mutation in the kinase domain of the GNE gene, dating before the Gypsy exodus from North West India. The clinical features in the Bulgarian ONE group can be described with disease onset mostly in the third decade, but in individual cases, onset was as early as 10 years of age. The majority of patients had foot drop as the first symptom, but three patients developed hand weakness first. Muscle weakness was early and severe for the tibialis anterior, and minimal or late for quadriceps femoris, and respiratory muscles were only subclinically affected even in the advanced stages of the disease. During a 15-year follow-up period, 32 patients became non-ambulant. The average period between disease onset and loss of ambulation was 10.34 +/- 4.31 years, ranging from 3 to 20 years. Our analysis of affected sib pairs suggested a possible role of genetic modifying factors, accounting for significant variation in disease severity. (C) 2015 Elsevier B.V. All rights reserved.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Chamova, Teodora UNSPECIFIED UNSPECIFIED UNSPECIFIED Guergueltcheva, Velina UNSPECIFIED UNSPECIFIED UNSPECIFIED Gospodinova, Mariana UNSPECIFIED UNSPECIFIED UNSPECIFIED Krause, Sabine UNSPECIFIED orcid.org/0000-0002-3141-886X UNSPECIFIED Cirak, Sebahattin UNSPECIFIED UNSPECIFIED UNSPECIFIED Kaprelyan, Ara UNSPECIFIED UNSPECIFIED UNSPECIFIED Angelova, Lyudmila UNSPECIFIED UNSPECIFIED UNSPECIFIED Mihaylova, Violeta UNSPECIFIED UNSPECIFIED UNSPECIFIED Bichev, Stoyan UNSPECIFIED UNSPECIFIED UNSPECIFIED Chandler, David UNSPECIFIED UNSPECIFIED UNSPECIFIED Naydenov, Emanuil UNSPECIFIED UNSPECIFIED UNSPECIFIED Grudkova, Margarita UNSPECIFIED UNSPECIFIED UNSPECIFIED Djukmedzhiev, Presian UNSPECIFIED UNSPECIFIED UNSPECIFIED Voit, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Pogoryelova, Oksana UNSPECIFIED UNSPECIFIED UNSPECIFIED Lochmueller, Hanns UNSPECIFIED UNSPECIFIED UNSPECIFIED Goebel, Hans H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bahlo, Melanie UNSPECIFIED orcid.org/0000-0001-5132-0774 UNSPECIFIED Kalaydjieva, Luba UNSPECIFIED UNSPECIFIED UNSPECIFIED Tournev, Ivailo UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-395809
DOI:	10.1016/j.nmd.2015.07.004
Journal or Publication Title:	Neuromusc. Disord.
Volume:	25
Number:	9
Page Range:	S. 713 - 719
Date:	2015
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 INCLUSION-BODY MYOPATHY; DISTAL MYOPATHY; RIMMED VACUOLES; CHROMOSOME 9P1-Q1; GENE; QUADRICEPS; PHENOTYPE; HISTORY Multiple languages Clinical Neurology; Neurosciences Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/39580