Congenital muscular dystrophy due to lamin A/C deficiency (Q103667): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed an Item |
||||||||||||||
| (6 intermediate revisions by the same user not shown) | |||||||||||||||
| description / pt-br | description / pt-br | ||||||||||||||
Distrofia muscular congênita caracterizada por fraqueza cervical acentuada e associada a mutações no gene da lâmina A/C. As laminopatias são um grupo altamente heterogêneo de doenças causadas por mutações no gene LMNA, que codifica as laminas do tipo A do envelope nuclear. Mutações nesse gene têm sido associadas a uma acentuada heterogeneidade fenotípica que também inclui distúrbios não musculares. Em relação aos fenótipos miopáticos, Emery-Dreifuss autossômico dominante, LGMD1B e distrofia muscular associada a defeitos do sistema de condução cardíaca são as condições mais comuns. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Congenital muscular dystrophy characterised by marked cervical weakness and associated with mutations in lamin A/C gene. Laminopathies are a highly heterogenous group of disorders caused by mutations in the LMNA gene, which codes for the A-type lamins of the nuclear envelope. Mutations in this gene have been associated to a marked phenotypic heterogeneity that also include non-muscular disorders. Regarding myopathic phenotypes, autosomal dominant Emery-Dreifuss, LGMD1B and muscular dystrophy associated with cardiac conduction system defects are the most common conditions. | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/326084905 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_326084905 | |||||||||||||||
| Property / CURIE: CID11:ID_326084905 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_326084905 | |||||||||||||||
| Property / Canary Token: dki-india-ID_326084905 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
16 August 2026
| |||||||||||||||
| Property / Collection date: 16 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 09:25, 17 August 2026
Congenital muscular dystrophy characterised by marked cervical weakness and associated with mutations in lamin A/C gene. Laminopathies are a highly heterogenous group of disorders caused by mutations in the LMNA gene, which codes for the A-type lamins of the nuclear envelope. Mutations in this gene have been associated to a marked phenotypic heterogeneity that also include non-muscular disorders. Regarding myopathic phenotypes, autosomal dominant Emery-Dreifuss, LGMD1B and muscular dystrophy associated with cardiac conduction system defects are the most common conditions.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_326084905 |
||
| English | Congenital muscular dystrophy due to lamin A/C deficiency |
Congenital muscular dystrophy characterised by marked cervical weakness and associated with mutations in lamin A/C gene. Laminopathies are a highly heterogenous group of disorders caused by mutations in the LMNA gene, which codes for the A-type lamins of the nuclear envelope. Mutations in this gene have been associated to a marked phenotypic heterogeneity that also include non-muscular disorders. Regarding myopathic phenotypes, autosomal dominant Emery-Dreifuss, LGMD1B and muscular dystrophy associated with cardiac conduction system defects are the most common conditions. |
Statements
CID11:ID_326084905
0 references
dki-india-ID_326084905
0 references
Concluído
0 references
16 August 2026
0 references
