Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report
Abstract Background Autosomal recessive hereditary spastic paraplegias (ARHSPs) are a group of clinically and genetically heterogeneous neurodegenerative diseases with progressive spasticity and weakness in the lower limbs. Mutations in the Spastic Paraplegia gene 7 (SPG7) account for about 5–21% of...
Gorde:
| Egile Nagusiak: | , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BMC
2018-11-01
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| Saila: | BMC Neurology |
| Gaiak: | |
| Sarrera elektronikoa: | http://link.springer.com/article/10.1186/s12883-018-1199-9 |
| Etiketak: |
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