title: Hereditary motor sensory neuropathy (type 1) presenting with transient and persistent central nervous system manifestations: a novel genetic mutation.
authors.forename: Michael
authors.initials: M
authors.lastname: Absoud
authors.forename: Louise
authors.initials: L
authors.lastname: Brueton
authors.forename: Rajat
authors.initials: R
authors.lastname: Gupta
authors.forename: Ros
authors.initials: R
authors.lastname: Quinlivan
authors.forename: Evangeline
authors.initials: E
authors.lastname: Wassmer
mesh_terms: D000293:Adolescent; D002490:Central Nervous System / Q000503:physiopathology*; D017630:Connexins / Q000235:genetics; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation / Q000235:genetics; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein