Format

Send to

Choose Destination
Neuromuscul Disord. 2017 Aug;27(8):742-746. doi: 10.1016/j.nmd.2017.05.003. Epub 2017 May 5.

Autosomal dominant distal myopathy due to a novel ACTA1 mutation.

Author information

1
Department of Neurology, Mayo Clinic, Rochester, MN, USA.
2
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
3
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
4
Department of Neurology, Mayo Clinic, Rochester, MN, USA. Electronic address: milone.margherita@mayo.edu.

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.

KEYWORDS:

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

PMID:
28606400
DOI:
10.1016/j.nmd.2017.05.003
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center