Investigating Genetic Causes of Mendelian Congenital Myopathies
This thesis investigates the genetic aetiology of congenital myopathy in families with an unresolved genetic diagnosis. In two families, massively parallel sequencing and functional analyses identified two genetic candidates: a regulatory variant (c.*152G>T) and multi-exon deletion in a known dis...
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| Format: | Thesis |
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Curtin University
2022
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| Online Access: | http://hdl.handle.net/20.500.11937/88348 |
| _version_ | 1848765007251111936 |
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| author | Dofash, Lein |
| author_facet | Dofash, Lein |
| author_sort | Dofash, Lein |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | This thesis investigates the genetic aetiology of congenital myopathy in families with an unresolved genetic diagnosis. In two families, massively parallel sequencing and functional analyses identified two genetic candidates: a regulatory variant (c.*152G>T) and multi-exon deletion in a known disease gene (KLHL40), and a homozygous missense variant (c.1339T>C) in HMGCS1, a novel disease gene. This work supports the further investigation of regulatory variants for congenital myopathy screening and highlights the mevalonate pathway in muscle function. |
| first_indexed | 2025-11-14T11:28:24Z |
| format | Thesis |
| id | curtin-20.500.11937-88348 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T11:28:24Z |
| publishDate | 2022 |
| publisher | Curtin University |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-883482022-04-29T04:17:48Z Investigating Genetic Causes of Mendelian Congenital Myopathies Dofash, Lein This thesis investigates the genetic aetiology of congenital myopathy in families with an unresolved genetic diagnosis. In two families, massively parallel sequencing and functional analyses identified two genetic candidates: a regulatory variant (c.*152G>T) and multi-exon deletion in a known disease gene (KLHL40), and a homozygous missense variant (c.1339T>C) in HMGCS1, a novel disease gene. This work supports the further investigation of regulatory variants for congenital myopathy screening and highlights the mevalonate pathway in muscle function. 2022 Thesis http://hdl.handle.net/20.500.11937/88348 Curtin University fulltext |
| spellingShingle | Dofash, Lein Investigating Genetic Causes of Mendelian Congenital Myopathies |
| title | Investigating Genetic Causes of Mendelian Congenital Myopathies |
| title_full | Investigating Genetic Causes of Mendelian Congenital Myopathies |
| title_fullStr | Investigating Genetic Causes of Mendelian Congenital Myopathies |
| title_full_unstemmed | Investigating Genetic Causes of Mendelian Congenital Myopathies |
| title_short | Investigating Genetic Causes of Mendelian Congenital Myopathies |
| title_sort | investigating genetic causes of mendelian congenital myopathies |
| url | http://hdl.handle.net/20.500.11937/88348 |