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Novel CHKB mutation expands the megaconial muscular dystrophy phenotype
Authors:Macarena Cabrera‐Serrano MD  Reimar C. Junckerstorff MBBS  FRCPA  Vanessa Atkinson BSc  Padma Sivadorai BSc  Richard J. Allcock PhD  Phillipa Lamont MD  Nigel G. Laing PhD
Affiliation:1. Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia;2. Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain;3. Section of Neuropathology, PathWest Laboratory Medicine Western Australia, Royal Perth Hospital, Perth, Western Australia, Australia;4. Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia;5. Department of Diagnostic Genomics, Pathwest Laboratory Medicine Western Australia, Perth, Western Australia, Australia;6. Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia;7. Department of Clinical Immunology, Pathwest Laboratory Medicine Western Australia, Royal Perth Hospital, Perth, Western Australia, Australia;8. Neurogenetic Unit, Department of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia
Abstract:
Keywords:CHKB  congenital muscular dystrophy  megaconial myopathy  mitochondrial myopathy  utrophin upregulation
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