title: Congenital severe generalized muscle hypertonia during wakefulness: a distinct autosomal recessive disorder.
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009119:Muscle Contraction; D009127:Muscle Rigidity / Q000151:congenital / Q000235:genetics*; D009129:Muscle Tonus; D009422:Nervous System Diseases / Q000235:genetics*; D010375:Pedigree; D012890:Sleep; D013577:Syndrome; D014851:Wakefulness