GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation
Joint Authors
Diniz, Gulden
Secil, Y.
Ture, S.
Ceylaner, Serdar
Tokucoglu, Figen
Celebisoy, Mehmet
İncesu, Tülay Kurt
Akhan, Galip
Source
Case Reports in Neurological Medicine
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-05-19
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Background.
Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13.
It generally affects adults older than 20 years of age.
Methods and Results.
In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation in the GNE gene.
Both sisters had slightly higher levels of creatine kinase (CK) and muscle weakness.
The older sister presented at 38 years of age with an inability to climb steps, weakness, and a steppage gait.
Her younger sister was 36 years old and had similar symptoms.
The first symptoms of the disorder were seen when the sisters were 30 and 34 years old, respectively.
The muscle biopsy showed primary myopathic features and presence of rimmed vacuoles.
DNA analysis demonstrated the presence of previously unknown homozygous mutations [c.2152 G>A (p.A718T)] in the GNE genes.
Conclusion.
Based on our literature survey, we believe that ours is the first confirmed case of primary GNE myopathy with a novel missense mutation in Turkey.
These patients illustrate that the muscle biopsy is still an important method for the differential diagnosis of vacuolar myopathies in that the detection of inclusions is required for the definitive diagnosis.
American Psychological Association (APA)
Diniz, Gulden& Secil, Y.& Ceylaner, Serdar& Tokucoglu, Figen& Ture, S.& Celebisoy, Mehmet…[et al.]. 2016. GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation. Case Reports in Neurological Medicine،Vol. 2016, no. 2016, pp.1-4.
https://search.emarefa.net/detail/BIM-1101326
Modern Language Association (MLA)
Diniz, Gulden…[et al.]. GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation. Case Reports in Neurological Medicine No. 2016 (2016), pp.1-4.
https://search.emarefa.net/detail/BIM-1101326
American Medical Association (AMA)
Diniz, Gulden& Secil, Y.& Ceylaner, Serdar& Tokucoglu, Figen& Ture, S.& Celebisoy, Mehmet…[et al.]. GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation. Case Reports in Neurological Medicine. 2016. Vol. 2016, no. 2016, pp.1-4.
https://search.emarefa.net/detail/BIM-1101326
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1101326