Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0110640 )
Relationships
is a type of
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Genes Involved
Zebrafish Models