Limb-girdle muscular dystrophy 2O, POMGNT1 gene mutation (Q86068): Difference between revisions
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A distrofia muscular de cinturas-distroglicanopatia (tipo C3; MDDGC3), também conhecida como LGMD2O, é causada por mutação homozigótica no gene que codifica a proteína O-manose beta-1,2-N-acetilglucosaminiltransferase (POMGNT1) no cromossomo 1p34. É uma forma rara de distrofia muscular autossômica recessiva da cintura escapular com cognição normal e faz parte de um grupo de distúrbios semelhantes resultantes da glicosilação defeituosa de alfa-distroglicana conhecida coletivamente como distroglicanopatias. | |||
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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. | |||
Revision as of 11:25, 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. |
