title: Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation.
authors.affiliation: Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia.|Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales, Australia.
authors.forename: William
authors.initials: W
authors.lastname: Huynh
authors.affiliation: Department of Diagnostic Genomics, PathWest, Nedlands, Western Australia, Australia.
authors.forename: Mark R
authors.initials: MR
authors.lastname: Davis
mesh_terms: D000328:Adult; D001763:Blepharoptosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D003286:Contracture / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005152:Facial Muscles / Q000502:physiology*; D005260:Female; D006801:Humans; D018908:Muscle Weakness / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009136:Muscular Dystrophies / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D009154:Mutation / Q000235:genetics*