Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review
Abstract Background Hereditary spastic paraplegias (HSP) are of great clinical and genetic heterogeneity. According to the clinical features, HSP can be divided into pure or complicated subtypes which combined with other neurological symptoms including cerebellar ataxia. Up to date, 78 loci or genes...
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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMC
2019-04-01
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| シリーズ: | Orphanet Journal of Rare Diseases |
| 主題: | |
| オンライン･アクセス: | http://link.springer.com/article/10.1186/s13023-019-1053-1 |
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