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Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations

Journal article
Authors Eva Michael
Carola Oldfors Hedberg
Philip Wilmar
Kittichate Visuttijai
Anders Oldfors
Niklas Darin
Published in Neuromuscular Disorders
Volume 29
Issue 2
Pages 108-113
ISSN 0960-8966
Publication year 2019
Published at Institute of Biomedicine, Department of Medical and Clinical Genetics
Institute of Biomedicine, Department of Pathology
Institute of Clinical Sciences, Department of Pediatrics
Pages 108-113
Language en
Links dx.doi.org/10.1016/j.nmd.2018.12.00...
Keywords Nemaline myopathy, Severe congenital form, LMOD3, Novel mutation, Morphological hallmark, Neurosciences & Neurology
Subject categories Neurosciences

Abstract

We describe the long-term follow-up of a patient with severe nemaline myopathy due to a novel homozygous mutation in the Leiomodin 3 (LMOD3) gene and describe the histopathological characteristics of the disease. The patient presented at birth with hydrops fetalis, multiple joint contractures, severe generalized muscle weakness, no movement, and respiratory insufficiency. At eight years of age, she had bilateral ophthalmoplegia, visual impairment, multiple contractures, and scoliosis, and is dependent on a home mechanical ventilator and gastrostomy. Except for slight head nodding, she has no voluntary movements. Whole-exome sequencing revealed a homozygous one-base duplication in the LMOD3 gene (c.882dupA, p.Asp295Argfs*2), which would result in a truncated protein. Muscle biopsy in the girl and an unrelated patient homozygous for LMOD3 p.G1u357* showed characteristic morphology of the nemaline rods. Many rods appeared as fragments of thickened Z-discs, frequently in pairs, which were interconnected by short thin filaments. Although not specific, this may be a morphological hallmark of LMOD3-associated nemaline myopathy. (C) 2018 Elsevier B.V. All rights reserved.

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Denna text är utskriven från följande webbsida:
http://www.gu.se/english/research/publication/?publicationId=279641
Utskriftsdatum: 2019-10-16