Antenatal multi-minicore disease with arthrogryposis multiplex congenital (Q104027): Difference between revisions
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Miopatia congênita infrequente caracterizada pelo início pré-natal de artrogripose das extremidades distais ou cintura do membro. Multi-minicore são definidos por mudanças estruturais na microscopia óptica e eletrônica, ou seja, várias pequenas áreas sem atividade enzimática oxidativa e desorganização focal de proteínas contráteis envolvendo no máximo alguns sarcômeros. A forma clássica da doença se manifesta por hipotonia mais ou menos grave e fraqueza generalizada com predomínio na musculatura axial e proximal dos membros. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Infrequent congenital myopathy characterised by antenatal onset of arthrogryposis of distal extremities or limb girdle. Multi-minicore are defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganisation of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalised weakness with predominance in axial and proximal limb muscles. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/2136141208 / rank | |||||||||||||||
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CID11:ID_2136141208 | |||||||||||||||
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dki-india-ID_2136141208 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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16 August 2026
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| Property / Collection date: 16 August 2026 / rank | |||||||||||||||
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Latest revision as of 09:51, 17 August 2026
Infrequent congenital myopathy characterised by antenatal onset of arthrogryposis of distal extremities or limb girdle. Multi-minicore are defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganisation of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalised weakness with predominance in axial and proximal limb muscles.
| Language | Label | Description | Also known as |
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| default for all languages | ID_2136141208 |
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| English | Antenatal multi-minicore disease with arthrogryposis multiplex congenital |
Infrequent congenital myopathy characterised by antenatal onset of arthrogryposis of distal extremities or limb girdle. Multi-minicore are defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganisation of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalised weakness with predominance in axial and proximal limb muscles. |
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CID11:ID_2136141208
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dki-india-ID_2136141208
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Concluído
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16 August 2026
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