Limb-girdle muscular dystrophy 2Q, plectin deficiency (Q86059)
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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. |
