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

TitleCytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods
Authors
Issue Date2017
PublisherElsevier Ltd. The Journal's web site is located at http://www.elsevier.com/locate/nmd
Citation
Neuromuscular Disorders, 2017, v. 27 n. 6, p. 531-536 How to Cite?
AbstractMutations 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.
Persistent Identifierhttp://hdl.handle.net/10722/248492
ISSN
2017 Impact Factor: 2.487
2015 SCImago Journal Rankings: 1.447
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorDonkervoort, S-
dc.contributor.authorChan, HSS-
dc.contributor.authorHayes, LH-
dc.contributor.authorBradley, N-
dc.contributor.authorNguyen, D-
dc.contributor.authorLeach, ME-
dc.contributor.authorMohassel, P-
dc.contributor.authorHu, Y-
dc.contributor.authorThangarajh, M-
dc.contributor.authorBharucha-Goebel, D-
dc.contributor.authorKan, A-
dc.contributor.authorHo, RSL-
dc.contributor.authorReyes, CA-
dc.contributor.authorNance, J-
dc.contributor.authorMoore, SA-
dc.contributor.authorFoley, AR-
dc.contributor.authorBonnemann, CG-
dc.date.accessioned2017-10-18T08:44:03Z-
dc.date.available2017-10-18T08:44:03Z-
dc.date.issued2017-
dc.identifier.citationNeuromuscular Disorders, 2017, v. 27 n. 6, p. 531-536-
dc.identifier.issn0960-8966-
dc.identifier.urihttp://hdl.handle.net/10722/248492-
dc.description.abstractMutations 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.-
dc.languageeng-
dc.publisherElsevier Ltd. The Journal's web site is located at http://www.elsevier.com/locate/nmd-
dc.relation.ispartofNeuromuscular Disorders-
dc.titleCytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods-
dc.typeArticle-
dc.identifier.emailChan, HSS: sophehs@hku.hk-
dc.identifier.authorityChan, HSS=rp02210-
dc.identifier.doi10.1016/j.nmd.2017.02.012-
dc.identifier.hkuros281517-
dc.identifier.volume27-
dc.identifier.issue6-
dc.identifier.spage531-
dc.identifier.epage536-
dc.identifier.isiWOS:000405881300004-
dc.publisher.placeUnited Kingdom-
dc.identifier.f1000727721050-

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