Á lódáil...
A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss
Hereditary spastic paraplegias (HSPs) are well‐characterized disorders but rarely reported in Africa. We evaluated a Malian family in which three individuals had HSP and distal muscle atrophy and sensory loss. HSP panel testing identified a novel heterozygous missense mutation in KIF5A (c.1086G>C...
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| Foilsithe in: | Ann Clin Transl Neurol |
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| Main Authors: | , , , , , , , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
John Wiley and Sons Inc.
2017
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5376762/ https://ncbi.nlm.nih.gov/pubmed/28382308 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.402 |
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