Centronuclear myopathy (Q41397): Difference between revisions
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Miopatia centronuclear (MCN) é um transtorno neuromuscular hereditário caracterizado por manifestações clínicas de uma miopatia congênita e núcleos localizados centralmente na biópsia muscular. Ela engloba a forma ligada ao X, a forma autossômica recessiva e a forma autossômica dominante com uma apresentação clínica altamente variável. | |||
| description / en | description / en | ||
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. It encompasses the X-linked form, the autosomal recessive form and the autosomal dominant form with a highly variable clinical presentation. | |||
Revision as of 07:33, 13 August 2026
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. It encompasses the X-linked form, the autosomal recessive form and the autosomal dominant form with a highly variable clinical presentation.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8C72.01 |
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| English | Centronuclear myopathy |
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. It encompasses the X-linked form, the autosomal recessive form and the autosomal dominant form with a highly variable clinical presentation. |
