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Cytoplasmic body pathology in severe ACTA1 -related myopathy in the absence of typical nemaline rods

Content Provider	Scilit
Author	Donkervoort, Sandra Chan, Sophelia H. S. Hayes, Leslie H. Bradley, Nathaniel Nguyen, David Leach, Meganne E. Mohassel, Payam Hu, Ying Thangarajh, Mathula Bharucha-Goebel, Diana Kan, Amanda Ho, Ronnie S. L. Reyes, Christine A. Nance, Jessica Moore, Steven A. Foley, A. Reghan Bönnemann, Carsten G.
Copyright Year	2017
Description	Journal: Neuromuscular Disorders Mutations in ACTA1 cause a group of myopathies with expanding clinical and histopathological heterogeneity. We describe three patients with severe ACTA1-related myopathy who have muscle fiber cytoplasmic bodies but no classic nemaline rods. Patient 1 is a five-year-old boy who presented at birth with severe weakness and respiratory failure, requiring mechanical ventilation. Whole exome sequencing identified a heterozygous c.282C>A (p.Asn94Lys) ACTA1 mutation. Patients 2 and 3 were twin boys with hypotonia, severe weakness, and respiratory insufficiency at birth requiring mechanical ventilation. Both died at 6 months of age. The same heterozygous c.282C>A (p.Asn94Lys) ACTA1 mutation was identified by whole exome sequencing. We conclude that clinically severe ACTA1-related myopathy can present with muscle morphological findings suggestive of cytoplasmic body myopathy in the absence of definite nemaline rods. The Asn94Lys mutation in skeletal muscle sarcomeric α-actin may be linked to this histological appearance. These novel ACTA1 cases also illustrate the successful application of whole exome sequencing in directly arriving at a candidate genetic diagnosis in patients with unexpected phenotypic and histologic features for a known neuromuscular gene.
Related Links	http://europepmc.org/articles/pmc5918412?pdf=render https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5918412/pdf http://www.nmd-journal.com/article/S0960896616308963/pdf
Ending Page	536
Page Count	6
Starting Page	531
ISSN	09608966
e-ISSN	18732364
DOI	10.1016/j.nmd.2017.02.012
Journal	Neuromuscular Disorders
Issue Number	6
Volume Number	27
Language	English
Publisher	Elsevier BV
Publisher Date	2017-03-03
Access Restriction	Open
Subject Keyword	Journal: Neuromuscular Disorders Pediatrics and Child Health Skeletal Muscle Α-actin Congenital Myopathies Cytoplasmic Bodies
Content Type	Text
Resource Type	Article
Subject	Neurology Neurology (clinical) Genetics (clinical) Pediatrics, Perinatology and Child Health

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