Article
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.
Neurology - 26 Jan 2016
Ghaoui Roula, Palmio Johanna, Brewer Janice, Lek Monkol, Needham Merrilee, Evilä Anni, Hackman Peter, Jonson Per-Harald, Penttilä Sini, Vihola Anna, Huovinen Sanna, Lindfors Mikaela, Davis Ryan L, Waddell Leigh, Kaur Simran, Yiannikas Con, North Kathryn, Clarke Nigel, MacArthur Daniel G, Sue Carolyn M, Udd Bjarne
Abstract excerpt
OBJECTIVE: To report novel disease and pathology due to HSPB8 mutations in 2 families with autosomal dominant distal neuromuscular disease showing both myofibrillar and rimmed vacuolar myopathy together with neurogenic changes. METHODS: We performed whole-exome sequencing (WES) in tandem with linkage analysis and candidate gene approach as well as targeted next-generation sequencing (tNGS) to identify causative...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.