A case report of a REEP1 mutation in congenital distal spinal muscular atrophy

Takeaway

  • This report found a homozygous p.Trp42Arg REEP1 mutation in a girl with severe congenital distal spinal muscular atrophy (SMA) with diaphragmatic paralysis.

Why this matters

    This report expands the phenotypic spectrum of the p.Trp42Arg REEP1 mutation beyond its causative role in autosomal dominant hereditary spastic paraplegia.