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Table 2 Genetics of LMNA mutated patients with neurological onset (N = 14)

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

 GeneLocationNucleotide ChangeProtein ChangePredicted Effect
Family 1
F; 16 yoLMNAExon 4c.746G > Ap.Arg249GlnMissense
Family 2
F; 50 yoLMNAExon 9c.1580G > Cp.Arg.527.ProMissense
Family 3
M; 38 yoLMNAExon 11c.1930C > Tp.Arg644CysMissense
M; 38 yoLMNAExon 11c.1930C > Tp.Arg644CysMissense
Family 4
F; 46 yoLMNAExon 3
Exon 4
c.569G > A;
c. 746G > A
p.Arg190Gln
p.Arg249Gln
Missense
Missense
Family 5
F; 34 yoLMNAExon 1c.203_208 (delAGGTGG)p.Glu68_Val69 delDeletion
Family 6
M; 52 yoLMNAExon 4c.746G > Ap.Arg249GlnMissense
Family 7
M; 46 yoLMNAExon 9c.1567G > Ap.Gly523ArgMissense
Family 8
M; 17 yoLMNAExon 4c.775 T > Gp.Tyr259AspMissense
Family 9
M; 19 yoLMNAExon 4c.746 G > Ap.Arg249GlnMissense
Family 10
F; 29 yoLMNAIntron 9c.1608 + 1G > TSplice site
Family 11
F; 22 yoLMNAExon 1c.188 T > Ap.Ile63AsnMissense
F; 19 yoLMNAExon 1c.188 T > Ap.Ile63AsnMissense
Family 12
M; 27 yoLMNAExon 4c.746G > Ap.Arg249GlnMissense
  1. M male, F female, yo years old. The age reported refers to first contact at our centre