A novel congenital myopathy with apoptotic changes.
We report on a female child with congenital myopathy with delayed developmental milestones and mental retardation. The most striking pathological finding was the presence of many condensed to fragmented myonuclei. DNA fragmentation was confirmed by the TUNEL method and supported by the ultrastructural characteristics of apoptotic nuclear changes. We also demonstrated immunohistochemically the activation of caspase-3 and caspase-9. This appears to be the first reported case of congenital myopathy with apoptotic process.
Ikezoe
K
K
Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
Yan
C
C
Momoi
T
T
Imoto
C
C
Minami
N
N
Ariga
M
M
Nihei
K
K
Nonaka
I
I
D017209:Apoptosis; D001706:Biopsy; D002467:Cell Nucleus / Q000473:pathology / Q000648:ultrastructure; D002675:Child, Preschool; D005260:Female; D006801:Humans; D020287:In Situ Nick-End Labeling; D008854:Microscopy, Electron; D018485:Muscle Fibers, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000151:congenital* / Q000473:pathology*