Limb-girdle muscular dystrophy-dystroglycanopathy C7 (Q86060): Difference between revisions

@@ description / pt-br / description / pt-br @@
+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.
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+August 2026Timestamp +2026-08-13T00:00:00Z
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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.