TPM3 mutation in one of the original cases of cap disease.
Ohlsson
Monica
M
Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
Fidzianska
Anna
A
Tajsharghi
Homa
H
Oldfors
Anders
A
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*
D005819:Genetic Markers; C498783:TPM3 protein, human; D014335:Tropomyosin