autosomal recessive limb-girdle muscular dystrophy type 2Y

Term ID

DOID:0110289

Synonyms

• autosomal recessive muscular dystrophy due to LAP1B deficiency
• autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
• LGMD2Y
• muscular dystrophy with progressive weakness, distal contractures and rigid spine
• muscular dystrophy, limb-girdle, type 2Y

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. https://www.ncbi.nlm.nih.gov/pubmed/24856141

References

• ICD10CM:G71.0
• OMIM:617072
• ORDO:424261

Ontology

Human Disease   ( DOID:0110289 )