autosomal recessive limb-girdle muscular dystrophy type 2I

Term ID

DOID:0110299

Synonyms

• LGMD2I
• Limb-girdle muscular dystrophy due to FKRP deficiency
• MDDGC5
• muscular dystrophy limb-girdle type 2I
• muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
• muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. https://www.ncbi.nlm.nih.gov/pubmed/11592034

References

• ICD10CM:G71.0
• OMIM:607155
• ORDO:34515

Ontology

Human Disease   ( DOID:0110299 )