ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles

Teerin Liewluck, Zhiyv Niu, Steven A. Moore, Mohammad Alsharabati, Margherita Milone

Research output: Contribution to journalArticle

Abstract

Actinopathy is a group of clinically and pathologically heterogeneous myopathies due to mutations in the skeletal muscle sarcomeric α-actin 1-encoding gene (ACTA1). Disease-onset spans from prenatal life to adulthood and weakness can preferentially affect proximal or distal muscles. Myopathological findings include a spectrum of structural abnormalities with nemaline rods being the most common. We report a daughter and father with prominent finger flexors and/or quadriceps involvement. Muscle biopsies revealed rimmed vacuoles in both patients, associated with type 1 fiber atrophy in the daughter, and nemaline rods in the father. Next generation sequencing identified a novel dominant ACTA1 variant, c.149G>A (p.Gly50Asp) in both individuals and no abnormal variants in vacuolar myopathy-associated genes. Our findings expand the clinico-pathological spectrum of actinopathy.

Original languageEnglish (US)
JournalNeuromuscular Disorders
DOIs
StatePublished - Jan 1 2019

Fingerprint

Muscular Diseases
Vacuoles
Nuclear Family
Fathers
Fingers
Muscles
Genes
Atrophy
Actins
Skeletal Muscle
Biopsy
Mutation
Vacuolar myopathy

Keywords

  • ACTA1
  • Congenital fiber type disproportion
  • Finger flexor weakness
  • IBM
  • Inclusion body myositis
  • Nemaline myopathy
  • Rimmed vacuoles

ASJC Scopus subject areas

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

Cite this

ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles. / Liewluck, Teerin; Niu, Zhiyv; Moore, Steven A.; Alsharabati, Mohammad; Milone, Margherita.

In: Neuromuscular Disorders, 01.01.2019.

Research output: Contribution to journalArticle

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