Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Leu162Pro (p.L162P)
(
ENST00000368299.7,
ENST00000361308.9,
ENST00000448611.6,
ENST00000676385.2,
ENST00000368300.9,
ENST00000682650.1,
ENST00000504687.7,
ENST00000675667.1,
ENST00000675939.1,
ENST00000677389.1,
ENST00000368301.6,
ENST00000683032.1,
ENST00000473598.6,
ENST00000368297.5 )
LMNA p.Leu162Pro (p.L162P) ( ENST00000361308.9, ENST00000368297.5, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- Muscular Dystrophy, Emery-Dreifuss
- Source Database
- DisGeNET
- Description
- We report the clinical characteristics, genetic analysis, and muscle biopsy findings of a family with Emery-Dreifuss muscular dystrophy and a novel mutation (Leu162Pro) in the LMNA gene.
- Pubmed
- 18816602
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.273446939395862
- Year of publication
- 2008
Drugs