Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.
Oldfors
A
A
Tajsharghi
H
H
Thornell
L E
LE
D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D006801:Humans; D006818:Hyalin / Q000737:chemistry*; D002479:Inclusion Bodies / Q000737:chemistry*; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D020125:Mutation, Missense; D018995:Myosin Heavy Chains / Q000737:chemistry / Q000235:genetics*; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D012508:Sarcolemma / Q000648:ultrastructure
D018995:Myosin Heavy Chains