congenital muscular dystrophy due to LMNA mutation

Term ID

DOID:0110640

Synonyms

• congenital muscular dystrophy LMNA-related
• L-CMD
• LMNA-related congenital muscular dystrophy

Definition

A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (2)

References

• ICD10CM:G71.2
• OMIM:613205
• ORDO:157973

Ontology

Human Disease   ( DOID:0110640 )