Inclusion body myositis, muscle blood vessel and cardiac amyloidosis, and transthyretin Val122Ile allele.
Typical of sporadic inclusion body myositis muscle biopsies are vacuolated muscle fibers containing intracellular amyloid deposits and accumulations of "Alzheimer-characteristic" proteins. There is no muscle blood vessel or cardiac amyloidosis. We report on a 70-year-old African-American man homozygous for the transthyretin Val122Ile allele who has both sporadic inclusion body myositis and cardiac amyloidosis. His unique pathological features included transthyretin immunoreactivity in prominent muscle blood vessel amyloid and congophilic amyloid deposits within vacuolated muscle fibers.
Askanas
V
V
Department of Neurology, University of Southern California, Keck School of Medicine, Good Samaritan Hospital, Los Angeles, CA, USA.
Engel
W K
WK
Alvarez
R B
RB
Frangione
B
B
Ghiso
J
J
Vidal
R
R
D000368:Aged; D000483:Alleles; D000686:Amyloidosis / Q000473:pathology*; D001706:Biopsy; D003331:Coronary Vessels; D006720:Homozygote; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron; D018485:Muscle Fibers, Skeletal / Q000473:pathology / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000098:blood supply / Q000473:pathology; D009206:Myocardium / Q000473:pathology*; D009220:Myositis / Q000235:genetics / Q000473:pathology*; D009431:Neural Conduction; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011228:Prealbumin / Q000235:genetics*
D011228:Prealbumin