Limb-girdle muscular dystrophy 2J, Titin gene mutation (Q86066): 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 | ||||||||||||||
A distrofia muscular de cinturas tipo 2J (LGMD2J) é causada por mutação homozigótica no gene da titina, enquanto a mutação heterozigótica no gene da titina causa distrofia muscular tibial tardia. A mutação no gene da titina também causa cardiomiopatia dilatada tipo 1G. O início do fenótipo grave ocorre na primeira à terceira décadas e envolve fraqueza de todos os músculos proximais. Incapacidade grave com perda de deambulação ocorre dentro de 20 anos (terceira a sexta décadas). Não há envolvimento da musculatura facial ou cardiomiopatia. Alguns pacientes desenvolvem posteriormente envolvimento muscular distal. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Limb-girdle muscular dystrophy type 2J (LGMD2J) is caused by homozygous mutation in the titin gene, whereas heterozygous mutation in the titin gene causes tardive tibial muscular dystrophy. Mutation in the titin gene also causes dilated cardiomyopathy type 1G. Onset of the severe phenotype is in the first to third decades and involves weakness of all proximal muscles. Severe disability with loss of ambulation occurs within 20 years (third to sixth decades). There is no facial muscle involvement or cardiomyopathy. Some patients later develop distal muscle involvement. | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/437873883 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_437873883 | |||||||||||||||
| Property / CURIE: CID11:ID_437873883 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_437873883 | |||||||||||||||
| Property / Canary Token: dki-india-ID_437873883 / 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 type 2J (LGMD2J) is caused by homozygous mutation in the titin gene, whereas heterozygous mutation in the titin gene causes tardive tibial muscular dystrophy. Mutation in the titin gene also causes dilated cardiomyopathy type 1G. Onset of the severe phenotype is in the first to third decades and involves weakness of all proximal muscles. Severe disability with loss of ambulation occurs within 20 years (third to sixth decades). There is no facial muscle involvement or cardiomyopathy. Some patients later develop distal muscle involvement.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_437873883 |
||
| English | Limb-girdle muscular dystrophy 2J, Titin gene mutation |
Limb-girdle muscular dystrophy type 2J (LGMD2J) is caused by homozygous mutation in the titin gene, whereas heterozygous mutation in the titin gene causes tardive tibial muscular dystrophy. Mutation in the titin gene also causes dilated cardiomyopathy type 1G. Onset of the severe phenotype is in the first to third decades and involves weakness of all proximal muscles. Severe disability with loss of ambulation occurs within 20 years (third to sixth decades). There is no facial muscle involvement or cardiomyopathy. Some patients later develop distal muscle involvement. |
Statements
CID11:ID_437873883
0 references
dki-india-ID_437873883
0 references
Concluído
0 references
13 August 2026
0 references
