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 language | English (US) |
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Pages (from-to) | 388-391 |
Number of pages | 4 |
Journal | Neuromuscular Disorders |
Volume | 29 |
Issue number | 5 |
DOIs | |
State | Published - May 2019 |
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)