Ullrich congenital muscular dystrophy 1C

Term ID

DOID:0060943

Synonyms

Definition

An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37. https://pubmed.ncbi.nlm.nih.gov/23622361/

References

• OMIM:620728

Ontology

Human Disease   ( DOID:0060943 )