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...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Ann Clin Transl Neurol
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2017
Предметы:
Brief Communications
Online-ссылка: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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы