Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.
Hung
Ryan M
RM
Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
Yoon
Grace
G
Hawkins
Cynthia E
CE
Halliday
Willliam
W
Biggar
Doug
D
Vajsar
Jiri
J
D000185:Actinin / Q000235:genetics*; D001706:Biopsy / Q000592:standards; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology*; D018908:Muscle Weakness / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D012121:Respiration, Artificial; D012133:Respiratory Paralysis / Q000235:genetics; D012508:Sarcolemma / Q000378:metabolism / Q000473:pathology
C526905:ACTN1 protein, human; D000185:Actinin