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
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.