Limb-girdle muscular dystrophy-dystroglycanopathy C7 (Q86060): Difference between revisions
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Latest 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 |
|---|---|---|---|
| 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. |
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CID11:ID_787117844
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dki-india-ID_787117844
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Concluído
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13 August 2026
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