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KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors

Lookup NU author(s): Dr Juliane Mueller, Dr Teresinha Evangelista, Dr Ana TopfORCiD, Professor Hanns Lochmuller


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Congenital myopathies are a group of inherited muscle disorders characterized by hypotonia, weakness and a non-dystrophic muscle biopsy with the presence of one or more characteristic histological features. Neuromuscular transmission defects have recently been reported in several patients with congenital myopathies (CM). Mutations in KLHL40 are among the most common causes of severe forms of nemaline myopathy. Clinical features of affected individuals include fetal akinesia or hypokinesia, respiratory failure, and swallowing difficulties at birth. Muscle weakness is usually severe and nearly half of the individuals have no spontaneous antigravity movement. The average age of death has been reported to be 5 months in a recent case series. Herein we present a case of a patient with a nemaline myopathy due to KLHL40 mutations (c.604delG, p.Ala202Argfs*56 and c.1513G > C, p.Ala505Pro) with an impressive and prolonged beneficial response to treatment with high-dose pyridostigmine. Myasthenic features or response to ACEI have not previously been reported as a characteristic of nemaline myopathy or KLHL40-related myopathy.

Publication metadata

Author(s): Natera-de Benito D, Nascimento A, Abicht A, Ortez C, Jou C, Muller JS, Evangelista T, Topf A, Thompson R, Jimenez-Mallebrera C, Colomer J, Lochmuller H

Publication type: Article

Publication status: Published

Journal: Journal of Neurology

Year: 2016

Volume: 263

Issue: 3

Pages: 517-523

Print publication date: 01/03/2016

Online publication date: 11/01/2016

Acceptance date: 28/12/2015

ISSN (print): 0340-5354

ISSN (electronic): 1432-1459

Publisher: Springer


DOI: 10.1007/s00415-015-8015-x


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Funder referenceFunder name
305121European Union
305444European Union