Limb-girdle muscular dystrophy 2O, POMGNT1 gene mutation (Q86068): Difference between revisions
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13 August 2026
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Latest revision as of 11:26, 15 August 2026
Limb-girdle muscular dystrophy-dystroglycanopathy (type C3; MDDGC3), also known as LGMD2O, is caused by homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. It is a rare form of autosomal recessive limb-girdle muscular dystrophy with normal cognition, and it is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan collectively known as dystroglycanopathies.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1006273551 |
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| English | Limb-girdle muscular dystrophy 2O, POMGNT1 gene mutation |
Limb-girdle muscular dystrophy-dystroglycanopathy (type C3; MDDGC3), also known as LGMD2O, is caused by homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. It is a rare form of autosomal recessive limb-girdle muscular dystrophy with normal cognition, and it is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan collectively known as dystroglycanopathies. |
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CID11:ID_1006273551
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dki-india-ID_1006273551
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Concluído
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13 August 2026
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