ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles.

Neuromuscul Disord 2019 May 2;29(5):388-391. Epub 2019 Mar 2.

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address:

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.

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09608966183127
Publisher Site
http://dx.doi.org/10.1016/j.nmd.2019.02.012DOI Listing

Still can't find the full text of the article?

We can help you send a request to the authors directly.
May 2019
11 Reads

Publication Analysis

Top Keywords

rimmed vacuoles
8
nemaline rods
8
prominent finger
8
and/or quadriceps
4
flexors and/or
4
father prominent
4
finger flexors
4
quadriceps involvement
4
involvement muscle
4
vacuoles patients
4
patients associated
4
revealed rimmed
4
biopsies revealed
4
muscle biopsies
4
daughter father
4
rods common
4
muscles myopathological
4
myopathological findings
4
distal muscles
4
proximal distal
4

Similar Publications