Limb-girdle muscular dystrophy 2N, POMT2 gene mutation (Q86088): Difference between revisions
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Distrofia muscular de cinturas-distroglicanopatia (tipo C2; MDDGC2), anteriormente designada distrofia muscular de cintura-membro tipo 2N (LGMD2N), é causada por homozigose ou mutação heterozigótica composta no gene POMT2 no cromossomo 14q24.3. É uma distrofia muscular autossômica recessiva com início após o alcance da deambulação. A cognição é normal. Faz parte de um grupo de distúrbios semelhantes resultantes da glicosilação defeituosa do alfa-distroglicano, conhecidos coletivamente como distroglicanopatias. | |||
| description / en | description / en | ||
Limb-girdle muscular dystrophy-dystroglycanopathy (type C2; MDDGC2), previously designated limb-girdle muscular dystrophy type 2N (LGMD2N), is caused by homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. It is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. Cognition is normal. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as dystroglycanopathies. | |||
Revision as of 11:27, 15 August 2026
Limb-girdle muscular dystrophy-dystroglycanopathy (type C2; MDDGC2), previously designated limb-girdle muscular dystrophy type 2N (LGMD2N), is caused by homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. It is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. Cognition is normal. 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_1682388047 |
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| English | Limb-girdle muscular dystrophy 2N, POMT2 gene mutation |
Limb-girdle muscular dystrophy-dystroglycanopathy (type C2; MDDGC2), previously designated limb-girdle muscular dystrophy type 2N (LGMD2N), is caused by homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. It is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. Cognition is normal. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as dystroglycanopathies. |
