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"Emergency medicine" №2(97), 2019

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X-linked myotubular myopathy and dilated cardiomyopathy as the cause of respiratory failure in a ventilated child in the ICU (case report)

Authors: V.V. Orel(1), I.V. Kyselova(1), T.L. Winder(2)
(1) — Shupyk National Medical Academy of Postgraduate Education, Kyiv, Ukraine
(2) — INVITAE Laboratory, San Francisco, CA, USA

Categories: Medicine of emergency

Sections: Medical forums

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Background. Centronuclear myopathies (CNMs) are a group of clinically and genetically heterogeneous muscle disorders [1]. Myotubular myopathy, an X-linked form of CNM is characterized by neonatal hypotonia and inability to maintain unassisted respiration. The MTM1 gene, responsible for this disease, encodes myotubularin — a lipidic phosphatase involved in vesicle trafficking regulation and maturation [2]. Case report and discussion. We report a 7-month old male infant who has required mechanical ventilation since birth due to suspected neuromyopathy. Congenital adrenal hyperplasia, Pompe disease (type II glycogenosis), Prader — Willi syndrome, and SMA were excluded. Further genetic testing revealed a hemizygous variant (c. 64–2A ...

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1. Fattori F, Maggi L, Bruno C, Cassandrini D, Codemo V, Catteruccia M, et al. Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Ita-lian cohort. J Neurol. 2015 Jul;262(7):1728-40.
2. Oliveira J, Oliveira ME, Kress W, Taipa R, Pires MM, Hilbert P, et al. Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database. Eur J Hum Genet. 2013 May;21(5):540-9.
3. Herman GE, Kopacz K, Zhao W, Mills PL, Metzenberg A, Das S. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat. 2002 Feb;19(2):114-21.
4. Jordan DM, Kiezun A, Baxter SM, Agarwala V, Gre-en RC, Murray MF, et al. Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. Am J Hum Genet. 2011 Feb 11;88(2):183-92.

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