Limb-girdle muscular dystrophy 2Q, plectin deficiency (Q86059): Difference between revisions
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A distrofia muscular de cinturas autossômica recessiva tipo 2Q (LGMD2Q) é causada por mutação homozigótica no gene PLEC1. É caracterizada pelo aparecimento de fraqueza muscular proximal e atrofia na primeira infância sem envolvimento da pele. Uma família mostrou rápida progressão do transtorno na adolescência. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is caused by homozygous mutation in the PLEC1 gene. It is characterised by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/208250225 / rank | |||||||||||||||
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CID11:ID_208250225 | |||||||||||||||
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dki-india-ID_208250225 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest revision as of 11:25, 15 August 2026
Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is caused by homozygous mutation in the PLEC1 gene. It is characterised by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence.
| Language | Label | Description | Also known as |
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| default for all languages | ID_208250225 |
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| English | Limb-girdle muscular dystrophy 2Q, plectin deficiency |
Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is caused by homozygous mutation in the PLEC1 gene. It is characterised by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence. |
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CID11:ID_208250225
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dki-india-ID_208250225
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Concluído
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13 August 2026
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