Autosomal dominant distal myopathy due to a novel ACTA1 mutation

Teerin Liewluck, Eric James Sorenson, Magdalena A. Walkiewicz, Kandelaria M. Rumilla, Margherita Milone

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

Mutations in skeletal muscle α-actin 1-encoding gene (ACTA1) cause autosomal dominant or recessive myopathies with marked clinical and pathological heterogeneity. Patients typically develop generalized or limb-girdle pattern of weakness, but recently a family with scapuloperoneal myopathy was reported. We describe a father and 2 children with childhood-to-juvenile onset distal myopathy, carrying a novel dominant ACTA1 variant, c.757G>C (p.Gly253Arg). Father had delayed motor development and developed significant proximal weakness later in life; he was initially misdiagnosed as having spinal muscular atrophy based on electromyographic findings. His children had predominant anterior distal leg and finger extensor involvement. Nemaline rods were abundant on the daughter's biopsy, absent on the father's initial biopsy, and extremely rare on the father's subsequent biopsy a decade later. The father's second biopsy also showed myofibrillar pathology and rare fibers with actin filament aggregates. The present family expands the spectrum of actinopathy to include a distal myopathy.

Original languageEnglish (US)
JournalNeuromuscular Disorders
DOIs
StateAccepted/In press - Dec 12 2016

Keywords

  • ACTA1
  • Distal myopathy
  • Foot drop
  • Nemaline rods
  • TTN

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

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