Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene
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 dis...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2018-01-01
|
| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2018/8406712 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832555882491150336 |
|---|---|
| author | C. Simoncini V. Montano G. Alì R. Costa G. Siciliano M. Mancuso |
| author_facet | C. Simoncini V. Montano G. Alì R. Costa G. Siciliano M. Mancuso |
| author_sort | C. Simoncini |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c9ff009dc5234328ba959b3a22dbca3d |
| institution | Kabale University |
| issn | 2090-6668 2090-6676 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-c9ff009dc5234328ba959b3a22dbca3d2025-02-03T05:46:57ZengWileyCase Reports in Neurological Medicine2090-66682090-66762018-01-01201810.1155/2018/84067128406712Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY GeneC. Simoncini0V. Montano1G. Alì2R. Costa3G. Siciliano4M. Mancuso5Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, ItalyDepartment of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, ItalyDivision of Pathological Anatomy, University of Pisa, Pisa, ItalyDepartment of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, ItalyDepartment of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, ItalyDepartment of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, ItalyMitochondrial (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.http://dx.doi.org/10.1155/2018/8406712 |
| spellingShingle | C. Simoncini V. Montano G. Alì R. Costa G. Siciliano M. Mancuso Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene Case Reports in Neurological Medicine |
| title | Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene |
| title_full | Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene |
| title_fullStr | Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene |
| title_full_unstemmed | Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene |
| title_short | Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene |
| title_sort | proximal myopathy due to m 5835g a mutation in mitochondrial mt ty gene |
| url | http://dx.doi.org/10.1155/2018/8406712 |
| work_keys_str_mv | AT csimoncini proximalmyopathyduetom5835gamutationinmitochondrialmttygene AT vmontano proximalmyopathyduetom5835gamutationinmitochondrialmttygene AT gali proximalmyopathyduetom5835gamutationinmitochondrialmttygene AT rcosta proximalmyopathyduetom5835gamutationinmitochondrialmttygene AT gsiciliano proximalmyopathyduetom5835gamutationinmitochondrialmttygene AT mmancuso proximalmyopathyduetom5835gamutationinmitochondrialmttygene |