ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles

Teerin Liewluck; Zhiyv Niu; Steven A Moore; Mohammad Alsharabati; Margherita Milone

doi:10.1016/j.nmd.2019.02.012

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ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles

Journal article

Peer reviewed

ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles

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

Neuromuscular disorders : NMD, Vol.29(5), pp.388-391

05/2019

DOI: 10.1016/j.nmd.2019.02.012

PMCID: PMC6812538

PMID: 30987788

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Abstract

•We described a family with autosomal dominant myopathy and prominent finger flexor weakness.•The weakness pattern mimicked inclusion body myositis.•Muscle biopsies showed rimmed vacuoles in addition to type 1 fiber atrophy or nemaline rods.•A novel ACTA1 mutation was identified.•This family broadens the phenotypic and pathologic spectrum of actinopathies. 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.

ACTA1

Rimmed vacuoles

IBM

Nemaline myopathy

Congenital fiber type disproportion

Inclusion body myositis

Finger flexor weakness

Details

Title: Subtitle: ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles
Creators: Teerin Liewluck - Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Zhiyv Niu - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
Steven A Moore - Department of Pathology, University of Iowa, Iowa City, IA, USA
Mohammad Alsharabati - UnityPoint Clinic, Des Moines, IA, USA
Margherita Milone - Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Resource Type: Journal article
Publication Details: Neuromuscular disorders : NMD, Vol.29(5), pp.388-391
DOI: 10.1016/j.nmd.2019.02.012
PMID: 30987788
PMCID: PMC6812538
NLM abbreviation: Neuromuscul Disord
ISSN: 0960-8966
eISSN: 1873-2364
Publisher: Elsevier B.V
Language: English
Date published: 05/2019
Academic Unit: Neurology; Pathology
Record Identifier: 9984046925602771

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