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Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)
Introduction. Hereditary Spastic Paraplegia (HSP) is a rare hereditary disorder that primarily involves progressive spasticity of the legs (hamstrings, quadriceps, and calves). Methods. A 27-year-old gentleman was a fast runner and able to play soccer until age 9 when he developed slowly progressive...
में बचाया:
| में प्रकाशित: | Case Rep Genet |
|---|---|
| मुख्य लेखकों: | , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Hindawi Publishing Corporation
2015
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4620279/ https://ncbi.nlm.nih.gov/pubmed/26543653 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/496053 |
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