Limb-girdle muscular dystrophy 2L, AN05 gene mutation (Q86067): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed label, description and/or aliases in pt-br, en |
Changed an Item |
||||||||||||||
| (5 intermediate revisions by the same user not shown) | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/2062556044 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_2062556044 | |||||||||||||||
| Property / CURIE: CID11:ID_2062556044 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_2062556044 | |||||||||||||||
| Property / Canary Token: dki-india-ID_2062556044 / 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 | |||||||||||||||
13 August 2026
| |||||||||||||||
| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 11:25, 15 August 2026
Limb-girdle muscular dystrophy-2L (LGMD2L) is caused by homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. Miyoshi muscular dystrophy-3 is also caused by mutation in the ANO5 gene. Age at onset ranges from 11 to 50 years. The majority of patients report muscle pain. Although the severity of the phenotype is variable, all affected individuals have prominent weakness and atrophy of the quadriceps femoris muscles, often with asymmetric involvement.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2062556044 |
||
| English | Limb-girdle muscular dystrophy 2L, AN05 gene mutation |
Limb-girdle muscular dystrophy-2L (LGMD2L) is caused by homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. Miyoshi muscular dystrophy-3 is also caused by mutation in the ANO5 gene. Age at onset ranges from 11 to 50 years. The majority of patients report muscle pain. Although the severity of the phenotype is variable, all affected individuals have prominent weakness and atrophy of the quadriceps femoris muscles, often with asymmetric involvement. |
Statements
CID11:ID_2062556044
0 references
dki-india-ID_2062556044
0 references
Concluído
0 references
13 August 2026
0 references
