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

Highlights • ACTA1 -myopathy can present with cytoplasmic bodies in the absence of nemaline rods. • p.Asn94Lys ACTA1 mutation may be linked to this pathology and severe phenotype. • ACTA1 mosaicism may masquerade as recessive inheritance, complicating the workup.

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Bibliographische Detailangaben
Veröffentlicht in:	Neuromuscular disorders : NMD 2017-06, Vol.27 (6), p.531-536
Hauptverfasser:	Donkervoort, Sandra, Chan, Sophelia HS, Hotchkiss, Leslie, Bradley, Nathaniel, Nguyen, David, Leach, Meganne E, Mohassel, Payam, Hu, Ying, Thangarajh, Mathula, Bharucha-Goebel, Diana, Kan, Amanda, Ho, Ronnie SL, Reyes, Christine, Nance, Jessica, Moore, Steven A, Foley, A. Reghan, Bönnemann, Carsten G
Format:	Artikel
Sprache:	eng
Schlagworte:	ACTA1 Actins - genetics Child, Preschool Congenital myopathies Cytoplasmic bodies Exome Sequencing Humans Inclusion Bodies - pathology Male Muscle, Skeletal - pathology Muscular Diseases - complications Muscular Diseases - genetics Muscular Diseases - pathology Mutation Myopathies, Nemaline - complications Myopathies, Nemaline - genetics Myopathies, Nemaline - pathology Neurology Pedigree Skeletal muscle α-actin Twins
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Beschreibung
Zusammenfassung:	Highlights • ACTA1 -myopathy can present with cytoplasmic bodies in the absence of nemaline rods. • p.Asn94Lys ACTA1 mutation may be linked to this pathology and severe phenotype. • ACTA1 mosaicism may masquerade as recessive inheritance, complicating the workup.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2017.02.012