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Table 3 Genetics and cardiac manifestations of LMNA mutated patients without neurological onset (N = 26)

From: Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset

 GeneLocationNucleotide ChangeProtein ChangePredicted Effect
Family 1
M; 53 yoLMNAExon 6c.1004G > Ap.Arg335GlnMissense
M; 26 yoLMNAExon 6c.1004G > Ap.Arg335GlnMissense
Family 2
F; 47 yoLMNAExon 71370delAp.Lys457SerfsX2Deletion
Family 3
M; 19 yoLMNAExon 6c.1003G > Ap.Arg335GluMissense
Family 4
F; 55 yoLMNAExon 11c.1912G > Ap.Gly638ArgMissense
Family 5
M; 54 yoLMNAExon 7c.1202G > Ap.Arg401HisMissense
Family 6
M; 42 yoLMNAExon 1n/ap.Arg72Alafs*24Frame shift
Family 7
F; 51 yoLMNAExon 4c.752A > Cp.Gln251ProMissense
Family 8
M; 46 yoLMNAExon 9c.1517 A > Cp.His506ProMissense
Family 9
F; 38 yoLMNAIntron 9c1608 + 1G > TSplice site
M; 35 yoLMNAIntron 9c1608 + 1G > TSplice site
Family 10
F; 29 yoLMNAExon 3c.548 T > Cp.Leu183ProMissense
Family 11
F; 41 yoLMNAExon 6c.1007G > Ap.Arg336GlnMissense
Family 12
M; 60 yoLMNAIntron 1c.357-1G > A
IVS1-1G > A
Splice site
F; 46 yoLMNAIntron 1c.357-1G > A
IVS1-1G > A
Splice site
F; 49 yoLMNAIntron 1c.357-1G > A
IVS1-1G > A
Splice site
F; 49 yoLMNAIntron 1c.357-1G > A
IVS1-1G > A
Splice site
M; 21 yoLMNAIntron 1c.357-1G > A
IVS1-1G > A
Splice site
Family 13
M; 38 yoLMNAExon 6c.1129C > Tp.Arg377CysMissense
Family 14
M; 50 yoLMNAExon 2c.481G > Ap.Glu161LysMissense
Family 15
M; 46 yoLMNAExon 2c.466C > Ap.Arg156SerMissense
M; 34 yoLMNAExon 2c.466C > Ap.Arg156SerMissense
Family 16
M; 44 yoLMNAExon 4c.671 C > Tp.Thr224IleMissense
Family 17
F; 39 yoLMNAExon 2c.481G > Ap.Glu161LysMissense
Family 18
F; 37 yoLMNAExon 2c.513G > ApLys171AsnMissense
Family 19
F; 36 yoLMNAExon 5c.855delGp.Ala287LeufsX191Deletion
  1. M male, F female, yo years old. The age reported refers to first contact at our centre. n/a not available