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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 79091
Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.
Nineteen affected individuals have been described from one large family.
The causative gene, the hereditary inclusion-body myopathy ( IBM3 ) gene, has been mapped to chromosome region 17p13.1.
Inheritance is autosomal dominant.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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