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PubMed · 10762169

A novel congenital myopathy with apoptotic changes.

K Ikezoe·C Yan·T Momoi·C Imoto·N Minami·M Ariga·K Nihei·I Nonaka
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Abstract

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.

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ApoptosisBiopsyCell NucleusChild, PreschoolFemaleHumansIn Situ Nick-End LabelingMicroscopy, ElectronMuscle Fibers, SkeletalMuscular DiseasesCase ReportsJournal Article

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K Ikezoe, C Yan, T Momoi, C Imoto, N Minami, M Ariga, K Nihei, I Nonaka. 2000. A novel congenital myopathy with apoptotic changes.. https://pubmed.ncbi.nlm.nih.gov/10762169/

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