title: TPM3 mutation in one of the original cases of cap disease.
authors.affiliation: Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
authors.forename: Monica
authors.initials: M
authors.lastname: Ohlsson
authors.forename: Anna
authors.initials: A
authors.lastname: Fidzianska
authors.forename: Homa
authors.initials: H
authors.lastname: Tajsharghi
authors.forename: Anders
authors.initials: A
authors.lastname: Oldfors
mesh_terms: D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D018908:Muscle Weakness / Q000235:genetics / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D011014:Pneumonia / Q000209:etiology; D012121:Respiration, Artificial; D012133:Respiratory Paralysis / Q000150:complications / Q000503:physiopathology; D013121:Spinal Curvatures / Q000209:etiology; D014335:Tropomyosin / Q000235:genetics*
chemical_list: D005819:Genetic Markers; C498783:TPM3 protein, human; D014335:Tropomyosin