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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Bibliografiske detaljer
Udgivet i:Ann Clin Transl Neurol
Main Authors: Guinto, Cheick O., Diarra, Salimata, Diallo, Salimata, Cissé, Lassana, Coulibaly, Thomas, Diallo, Seybou H., Taméga, Abdoulaye, Chen, Ke‐Lian, Schindler, Alice B., Bagayoko, Koumba, Simaga, Assiatou, Blackstone, Craig, Fischbeck, Kenneth H., Landouré, Guida
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2017
Fag:
Brief Communications
Online adgang: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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