Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.
Tajsharghi
Homa
H
Department of Pathology, Sahlgrenska University Hospital, SE-413 45 Goteborg, Sweden.
Oldfors
Anders
A
Macleod
Dominic P
DP
Swash
Michael
M
D000328:Adult; D024722:Cardiac Myosins / Q000235:genetics*; D009202:Cardiomyopathies / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004417:Dyspnea / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D017809:Fatal Outcome; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006333:Heart Failure / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D018995:Myosin Heavy Chains / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D012132:Respiratory Muscles / Q000378:metabolism / Q000503:physiopathology; D012133:Respiratory Paralysis / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology
D005819:Genetic Markers; C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains