RGD Reference Report - Left ventricular noncompaction in a family with lamin A/C gene mutation. - Rat Genome Database

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Left ventricular noncompaction in a family with lamin A/C gene mutation.

Authors: Parent, JJ  Towbin, JA  Jefferies, JL 
Citation: Parent JJ, etal., Tex Heart Inst J. 2015 Feb 1;42(1):73-6. doi: 10.14503/THIJ-13-3843. eCollection 2015 Feb.
RGD ID: 11058532
Pubmed: PMID:25873806   (View Abstract at PubMed)
PMCID: PMC4378052   (View Article at PubMed Central)
DOI: DOI:10.14503/THIJ-13-3843   (Journal Full-text)

Left ventricular noncompaction is a rare type of cardiomyopathy, the genetics of which are poorly understood to date. Lamin A/C gene mutations have been associated with dilated cardiomyopathy and diseases of the conduction system, but rarely in left ventricular noncompaction cardiomyopathy. This report describes the cases of 4 family members with a lamin A/C gene mutation, 3 of whom had phenotypic expression of left ventricular noncompaction.

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Left ventricular noncompaction  IAGP 11058532DNA:missense mutation:cds:p.R644C (human)RGD 
Objects Annotated

Genes (Homo sapiens)
LMNA  (lamin A/C)


Additional Information