GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

Highlights • In the Bulgarian Roma/Gypsy population p.I618T is the founder mutation accounting for 99% of mutant alleles. • Distal muscle weakness in upper limbs was the initial presentation of the disease in three of our patients. • Genetic modifying factors possibly account for significant variati...

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Published in:Neuromuscular disorders : NMD 2015-09, Vol.25 (9), p.713-718
Main Authors: Chamova, Teodora, Guergueltcheva, Velina, Gospodinova, Mariana, Krause, Sabine, Cirak, Sebahattin, Kaprelyan, Ara, Angelova, Lyudmila, Mihaylova, Violeta, Bichev, Stoyan, Chandler, David, Naydenov, Emanuil, Grudkova, Margarita, Djukmedzhiev, Presian, Voit, Thomas, Pogoryelova, Oksana, Lochmüller, Hanns, Goebel, Hans H, Bahlo, Melanie, Kalaydjieva, Luba, Tournev, Ivailo
Format: Article
Language:English
Subjects:
Adolescent
Adult
Child
Disease Progression
Distal Myopathies - complications
Distal Myopathies - ethnology
Distal Myopathies - genetics
Distal Myopathies - physiopathology
Female
Follow-Up Studies
Founder Effect
Founder mutation
GNE myopathy
Homozygote
Humans
Male
Multienzyme Complexes - genetics
Mutation
Neurology
Pedigree
Phenotype
Roma
Young Adult
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Summary:Highlights • In the Bulgarian Roma/Gypsy population p.I618T is the founder mutation accounting for 99% of mutant alleles. • Distal muscle weakness in upper limbs was the initial presentation of the disease in three of our patients. • Genetic modifying factors possibly account for significant variation in disease severity among the affected.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2015.07.004