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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Case Rep Genet
मुख्य लेखकों: Jerath, Nivedita U., Grider, Tiffany, Shy, Michael E.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Hindawi Publishing Corporation 2015
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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