title: A family with autosomal recessive generalised myotonia with Herculean appearance.
abstract: A 28-year-old male had history of stiffness in limb muscles, with hypertrophy of most muscle groups and both action and percussion myotonia. We report a very interesting rare family of brothers and sister of myotonia congenita, conforming to autosomal recessive transmission (Becker's variety) with Herculean appearance.
authors.affiliation: Department of Neurology, Chhatrapati Shahuji Maharaj Medical University, Lucknow, U.P., India.
authors.forename: M K
authors.initials: MK
authors.lastname: Sinha
authors.forename: R N
authors.initials: RN
authors.lastname: Chaurasia
authors.forename: R
authors.initials: R
authors.lastname: Verma
mesh_terms: D000328:Adult; D018118:Chloride Channels / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004576:Electromyography; D005808:Genes, Recessive; D006801:Humans; D006984:Hypertrophy / Q000473:pathology; D008297:Male; D018908:Muscle Weakness / Q000209:etiology* / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D009224:Myotonia Congenita / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D010375:Pedigree; D010672:Phenytoin / Q000627:therapeutic use; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D016896:Treatment Outcome
chemical_list: D018118:Chloride Channels; D010672:Phenytoin; D004247:DNA