Ekhilevitch N. and colleagues present a novel milder MYBPC1 homozygous phenotype based on a whole-exome sequencing analysis of a consanguineous Israeli-Druze family with several members presenting with arthrogryposis multiplex congenita. Their variant analysis, focused on rare homozygous changes, revealed a missense variant in MYBPC1, NM_002465:c.556G>A (p.E286K).
Ekhilevitch, N. et al. Clinical Genetics.
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JOHN GARCIA, Invitae
San Francisco, USA