Limb-girdle muscular dystrophy-dystroglycanopathy C7 (Q86060): Difference between revisions
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A distrofia muscular da cinturas-distroglicanopatia (tipo C7; MDDGC7) é causada por mutação homozigótica no gene ISPD no cromossomo 7p21. ISPD codifica uma proteína contendo o domínio da isoprenóide sintase. É caracterizada pelo aparecimento de fraqueza muscular proximal na infância, afetando mais os membros inferiores do que os superiores. | |||
| description / en | description / en | ||
Limb-girdle muscular dystrophy-dystroglycanopathy (type C7; MDDGC7) is caused by homozygous mutation in the ISPD gene on chromosome 7p21. ISPD encodes an isoprenoid synthase domain-containing protein. It is characterised by childhood onset of proximal muscle weakness affecting the lower limbs more than the upper limbs. | |||
Revision as of 11:25, 15 August 2026
Limb-girdle muscular dystrophy-dystroglycanopathy (type C7; MDDGC7) is caused by homozygous mutation in the ISPD gene on chromosome 7p21. ISPD encodes an isoprenoid synthase domain-containing protein. It is characterised by childhood onset of proximal muscle weakness affecting the lower limbs more than the upper limbs.
| Language | Label | Description | Also known as |
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| default for all languages | ID_787117844 |
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| English | Limb-girdle muscular dystrophy-dystroglycanopathy C7 |
Limb-girdle muscular dystrophy-dystroglycanopathy (type C7; MDDGC7) is caused by homozygous mutation in the ISPD gene on chromosome 7p21. ISPD encodes an isoprenoid synthase domain-containing protein. It is characterised by childhood onset of proximal muscle weakness affecting the lower limbs more than the upper limbs. |
