Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

Roula Ghaoui; Johanna Palmio; Janice Brewer; Monkol Lek; Merrilee Needham; Anni Evila; Peter Hackman; Per-Harald Jonson; Sini Penttila; Anna Vihola; Sanna Huovinen; Mikaela Lindfors; Ryan L Davis; Leigh Waddell; Simran Kaur; Con Yiannikas; Kathryn North; Nigel Clarke; Daniel G MacArthur; Carolyn M Sue; Bjarne Udd

Journal article

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

Roula Ghaoui, Johanna Palmio, Janice Brewer, Monkol Lek, Merrilee Needham, Anni Evila, Peter Hackman, Per-Harald Jonson, Sini Penttila, Anna Vihola, Sanna Huovinen, Mikaela Lindfors, Ryan L Davis, Leigh Waddell, Simran Kaur, Con Yiannikas, Kathryn North, Nigel Clarke, Daniel G MacArthur, Carolyn M Sue Show all

Neurology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2016

DOI: 10.1212/WNL.0000000000002324

University of Melbourne Researchers

Kathryn North Author Paediatrics Royal Children's Hospital

Simran Kaur Author Paediatrics Royal Children's Hospital

Grants

Awarded by Australian National Health and Medical Research Council (NHMRC)

Awarded by National Human Genome Research Institute of the NIH

Funding Acknowledgements

This project was supported by Australian National Health and Medical Research Council (NHMRC) grants: APP1074954 (R. Ghaoui), APP1031893 and APP1022707 (K.N. North and N.F. Clarke), APP1035828 (N.F. Clarke), APP1008433 (C.M. Sue), APP1037797 (R.L. Davis), and Muscular Dystrophy New South Wales (R. Ghaoui). Exome sequencing was supported by grants from the National Human Genome Research Institute of the NIH (Medical Sequencing Program grant U54 HG003067 to the Broad Institute principal investigator, E. Lander). Also supported by Juselius Foundation, Finnish Academy, and the Folkhalsan Foundation (B. Udd).