Congenital muscular dystrophy due to lamin A/C deficiency (Q103667): Difference between revisions
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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. | |||
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 |
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| default for all languages | ID_326084905 |
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| 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. |
