autosomal recessive limb-girdle muscular dystrophy type 2J

Term ID

DOID:0110283

Synonyms

• LGMD2J
• muscular dystrophy, limb-girdle, type 2J

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN). https://www.ncbi.nlm.nih.gov/pubmed/12145747

References

• ICD10CM:G71.0
• OMIM:608807
• ORDO:140922

Ontology

Human Disease   ( DOID:0110283 )