Hyaline body myopathy (Q90783): Difference between revisions
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Miopatia de corpos hialinos é uma miopatia congênita rara que se manifesta com corpos hialinizados subsarcolemais em fibras do tipo 1. Ultraestruturalmente, os corpos hialinizados em amostras de biópsia muscular parecem consistir em material filamentoso ou granular fino e não ter uma membrana circundante. As miofibrilas vizinhas são normais, sem sinais de degeneração. Os achados clínicos são diversos, com fraqueza escapulo-peroneal ou fraqueza da cintura do membro. A idade de início nos pacientes relatados variou desde a primeira infância até a quinta década de vida. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Hyaline body myopathy is a rare congenital myopathy that manifests with subsarcolemmal hyalinized bodies in type 1 fibres. Ultrastructurally, hyalinized bodies in muscle biopsy samples appear to consist of fine filamentous or granular material and not to have a surrounding membrane. The neighbouring myofibrils were normal, with no sign of degeneration. The clinical findings are diverse, with either scapulo-peroneal weakness or limb girdle weakness. The age of onset in the patients reported varied from early childhood to the fifth decade of life. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/352828432 / rank | |||||||||||||||
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CID11:ID_352828432 | |||||||||||||||
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dki-india-ID_352828432 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest revision as of 17:46, 15 August 2026
Hyaline body myopathy is a rare congenital myopathy that manifests with subsarcolemmal hyalinized bodies in type 1 fibres. Ultrastructurally, hyalinized bodies in muscle biopsy samples appear to consist of fine filamentous or granular material and not to have a surrounding membrane. The neighbouring myofibrils were normal, with no sign of degeneration. The clinical findings are diverse, with either scapulo-peroneal weakness or limb girdle weakness. The age of onset in the patients reported varied from early childhood to the fifth decade of life.
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| default for all languages | ID_352828432 |
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| English | Hyaline body myopathy |
Hyaline body myopathy is a rare congenital myopathy that manifests with subsarcolemmal hyalinized bodies in type 1 fibres. Ultrastructurally, hyalinized bodies in muscle biopsy samples appear to consist of fine filamentous or granular material and not to have a surrounding membrane. The neighbouring myofibrils were normal, with no sign of degeneration. The clinical findings are diverse, with either scapulo-peroneal weakness or limb girdle weakness. The age of onset in the patients reported varied from early childhood to the fifth decade of life. |
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CID11:ID_352828432
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dki-india-ID_352828432
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Concluído
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13 August 2026
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