Ullrich congenital muscular dystrophy 1A

Term ID

DOID:0060946

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, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22. https://pubmed.ncbi.nlm.nih.gov/23622361/

References

• OMIM:254090

Ontology

Human Disease   ( DOID:0060946 )