KEGG   VARIANT: 11155v1
Entry
11155v1                      Variant                               
Name
LDB3 mutation
Type
Loss of function
Gene
LDB3  LIM domain binding 3 [KO:K19867]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605906
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00292  Hypertrophic cardiomyopathy
H00294  Dilated cardiomyopathy
H00595  Myofibrillar myopathies
H01216  Left ventricular noncompaction
Reference
  Authors
Koopmann TT, Jamshidi Y, Naghibi-Sistani M, van der Klift HM, Birjandi H, Al-Hassnan Z, Alwadai A, Zifarelli G, Karimiani EG, Sedighzadeh S, Bahreini A, Nouri N, Peter M, Watanabe K, van Duyvenvoorde HA, Ruivenkamp CAL, Teunissen AKK, Ten Harkel ADJ, van Duinen SG, Haak MC, Prada CE, Santen GWE, Maroofian R
  Title
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.
  Journal
Eur J Hum Genet 31:97-104 (2023)
DOI:10.1038/s41431-022-01204-9
Reference
  Authors
Behin A, Salort-Campana E, Wahbi K, Richard P, Carlier RY, Carlier P, Laforet P, Stojkovic T, Maisonobe T, Verschueren A, Franques J, Attarian S, Maues de Paula A, Figarella-Branger D, Becane HM, Nelson I, Duboc D, Bonne G, Vicart P, Udd B, Romero N, Pouget J, Eymard B
  Title
Myofibrillar myopathies: State of the art, present and future challenges.
  Journal
Rev Neurol (Paris) 171:715-29 (2015)
DOI:10.1016/j.neurol.2015.06.002
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