Fig. 3: Family with mitochondrial variant in MT-TV gene. | Human Genome Variation

Fig. 3: Family with mitochondrial variant in MT-TV gene.

From: Genetic architecture of left ventricular noncompaction in adults

Fig. 3: Family with mitochondrial variant in MT-TV gene.The alternative text for this image may have been generated using AI.

a BKS family pedigree, b variant identified in whole-exome sequencing data, c Sanger sequencing revealing variant in tRNA-valine, d variant position in mitochondrial tRNA valine. III:1 has neurological and cardiac involvement (LVNC and hypertrophy), II:4 experienced stroke at 21 years of age, III:4 and III:5 have muscle weakness and had developmental delay, III:2 has epilepsy and has experienced unexplained syncopal events. Grey symbols = individuals who have shown features consistent with mitochondrial disease however have not received a diagnosis.

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