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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Dettagli Bibliografici
Pubblicato in:Ann Clin Transl Neurol
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2017
Soggetti:
Brief Communications
Accesso online: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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