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congenital muscular dystrophy due to LMNA mutation

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.
Uniprot Description A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures.
Disease Ontology Description A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
Mondo Term and Equivalent IDs
MONDO:0013178:  congenital muscular dystrophy due to LMNA mutation
GARD:0012585: 
MESH:C567708: 
NCIT:C148369: 
Orphanet:157973: 
UMLS:C2750785: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)