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Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene
Joint Authors
Simoncini, C.
Montano, V.
Costa, Roberta
Alì, G.
Mancuso, Michelangelo
Siciliano, Gabriele
Source
Case Reports in Neurological Medicine
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-12-10
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Mitochondrial (mt) tRNA (MTT) gene mutations are an important cause of mitochondrial diseases and are associated with a wide range of clinical presentations.
Most mutations fall into three mitochondrial tRNAs (tRNAIle, tRNALeu (UUR), and tRNALys) and are responsible for half of the mitochondrial diseasees associated with tRNA mutation, with MERRF, MELAS, mitochondrial myopathy, and Leigh syndrome being the most frequent phenotypes.
More than 100 tRNA pathogenetic mutations are described, showing little correlation between the observed clinical phenotype and a specific mitochondrial tRNA mutation.
Furthermore different mutation can manifest with similar clinical phenotypes, making the genotype-phenotype correlation difficult.
Here we report the case of an Italian 53-year-old woman presenting with a proximal myopathy and the m.5835G>A mutation in MT-TY gene coding for the mitochondrial tRNA Tyrosine gene.
American Psychological Association (APA)
Simoncini, C.& Montano, V.& Alì, G.& Costa, Roberta& Siciliano, Gabriele& Mancuso, Michelangelo. 2018. Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene. Case Reports in Neurological Medicine،Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1145480
Modern Language Association (MLA)
Simoncini, C.…[et al.]. Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene. Case Reports in Neurological Medicine No. 2018 (2018), pp.1-4.
https://search.emarefa.net/detail/BIM-1145480
American Medical Association (AMA)
Simoncini, C.& Montano, V.& Alì, G.& Costa, Roberta& Siciliano, Gabriele& Mancuso, Michelangelo. Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene. Case Reports in Neurological Medicine. 2018. Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1145480
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145480