Academic Journal
Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy
| Title: | Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy |
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| Authors: | Mainak Bardhan, Kiran Polavarapu, Dipti Baskar, Veeramani Preethish-Kumar, Seena Vengalil, Saraswati Nashi, Valakunja H. Ganaraja, Dinesh Sharma, Karthik Kulanthaivelu, B.N. Nandeesh, Atchayaram Nalini |
| Source: | Global Medical Genetics, Vol 11, Iss 02, Pp 167-174 (2024) |
| Publisher Information: | KeAi Communications Co., Ltd., 2024. |
| Publication Year: | 2024 |
| Collection: | LCC:Genetics LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens |
| Subject Terms: | VMA21-related myopathy, autophagy, muscle MRI, Genetics, QH426-470, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282 |
| More Details: | Introduction VMA21-related myopathy is one of the rare forms of slowly progressive myopathy observed in males. Till now, there have been only a handful of reports, mainly from Europe and America, and two reports from India. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 2699-9404 |
| Relation: | https://doaj.org/toc/2699-9404 |
| DOI: | 10.1055/s-0044-1786815 |
| Access URL: | https://doaj.org/article/6b926896a46547af87bc6f517017fd4d |
| Accession Number: | edsdoj.6b926896a46547af87bc6f517017fd4d |
| Database: | Directory of Open Access Journals |
| ISSN: | 26999404 |
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| DOI: | 10.1055/s-0044-1786815 |
| Published in: | Global Medical Genetics |
| Language: | English |