title: Skeletal muscle and motor deficits in Neurofibromatosis Type 1.
abstract: Neurofibromatosis Type 1 (NF1) is a genetic neurocutaneous disorder with multisystem manifestations, including a predisposition to tumor formation and bone dysplasias. Studies over the last decade have shown that NF1 can also be associated with significant motor deficits, such as poor coordination, low muscle tone, and easy fatigability. These have traditionally been ascribed to developmental central nervous system and cognitive deficits. However, recent preclinical studies have also illustrated a primary role for the NF1 gene product in muscle growth and metabolism; these findings are consistent with clinical studies demonstrating reduced muscle size and muscle weakness in individuals with NF1. Currently there is no evidence-based intervention for NF1 muscle and motor deficiencies; this review identifies key research areas where improved mechanistic understanding could unlock new therapeutic options.
authors.affiliation: Orthopaedic Research and Biotechnology Unit, The Children's Hospital at Westmead, Sydney, NSW, Australia.|Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW, Australia.
authors.forename: M A
authors.initials: MA
authors.lastname: Summers
authors.affiliation: Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW, Australia.|Institute for Neuroscience and Muscle Research, The Children's Hospital Westmead, Sydney, NSW, Australia.
authors.forename: K G
authors.initials: KG
authors.lastname: Quinlan
authors.affiliation: Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW, Australia.|Institute for Neuroscience and Muscle Research, The Children's Hospital Westmead, Sydney, NSW, Australia.
authors.forename: J M
authors.initials: JM
authors.lastname: Payne
authors.affiliation: Orthopaedic Research and Biotechnology Unit, The Children's Hospital at Westmead, Sydney, NSW, Australia.|Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW, Australia.
authors.forename: D G
authors.initials: DG
authors.lastname: Little
authors.affiliation: Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
authors.forename: K N
authors.initials: KN
authors.lastname: North
authors.affiliation: Orthopaedic Research and Biotechnology Unit, The Children's Hospital at Westmead, Sydney, NSW, Australia.|Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW, Australia.
authors.forename: A
authors.initials: A
authors.lastname: Schindeler
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D019317:Evidence-Based Medicine; D005260:Female; D006801:Humans; D008297:Male; D009069:Movement Disorders / Q000503:physiopathology*; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology; D009456:Neurofibromatosis 1 / Q000473:pathology* / Q000503:physiopathology / Q000628:therapy; D055815:Young Adult