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Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments.

Two siblings developed cardiomyopathy several years before slowly progressive muscle weakness. Skeletal muscle biopsy specimens showed subsarcolemmal crescents of dark eosinophilic material in both type I and type II fibres. Immunohistochemically the subsarcolemmal material stained positively for th...

詳細記述

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書誌詳細
出版年:J Neurol Neurosurg Psychiatry
主要な著者: Vajsar, J, Becker, L E, Freedom, R M, Murphy, E G
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Publishing Group 1993
主題:
オンライン・アクセス:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC489614/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8509778/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jnnp.56.6.644
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