Infantile hypertonic myofibrillar myopathy is characterized by the rapid
development of rigid muscles and respiratory insufficiency soon after birth, with
very high mortality. It is extremely rare, and only a few cases having been
reported until now. Here we report four Chinese infants with fatal neuromuscular
disorders characterized by abdominal and trunk skeletal muscle stiffness and
rapid respiratory insufficiency progression. Electromyograms showed increased
insertion activities and profuse fibrillation potentials with complex repetitive
discharges. Immunohistochemistry staining of muscle biopsies showed accumulations
of desmin in the myocytes. Powdery Z-bands with dense granules across sarcomeres
were observed in muscle fibers using electron microscopy. All patients carry a
homozygous c.3G
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Case Report
c.3GA mutation in the CRYAB gene that causes fatal infantile hypertonic myofibrillar myopathy in the Chinese population
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1
Department of Neuromuscular Research Lab, Shenzhen Children’s Hospital, 518038 Shenzhen, P. R. China
2
Department of Neurology, Shenzhen Children’s Hospital, 518038 Shenzhen, P. R. China
3
Running Gene Inc.,100083 Beijing, P. R. China
*Correspondence: hanchunxi60@163.com (Chun-Xi Han)
J. Integr. Neurosci. 2021, 20(1), 143–151;
https://doi.org/10.31083/j.jin.2021.01.267
Submitted: 5 September 2020 | Revised: 18 November 2020 | Accepted: 3 December 2020 | Published: 30 March 2021
Copyright: © 2021 The Authors. Published by IMR Press.
This is an open access article under the CC BY 4.0 license (https://creativecommons.org/licenses/by/4.0/).
Abstract
Keywords
Myofibrillar myopathy
Infant
Neuromuscular disease
CRYAB mutation
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