Інформація призначена тільки для фахівців сфери охорони здоров'я, осіб,
які мають вищу або середню спеціальну медичну освіту.

Підтвердіть, що Ви є фахівцем у сфері охорони здоров'я.

"Emergency medicine" №2(97), 2019

Back to issue

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

print version

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 ...


For the full article you need to subscribe to the magazine.


Bibliography

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.

Similar articles

Arrhythmogenic right ventricular dysplasia (arvd) as a variant of primary cardiomyopathy
Authors: Sukhareva G.E.*, Sadovoy V.I.**, *State Institution Crimean State Medical University named after S.I. Georgievsky, Paediatrics Department with the Course of Children Infectious Diseases (head of the department: prof. Lagunova N.V.), **Crimean State Institution KTMO University Clinic.
"Child`s Health" 2 (45) 2013
Date: 2013.05.08
Categories: Cardiology, Pediatrics/Neonatology
Sections: Specialist manual
Gitelman Syndrome:  a Сlinical and Molecular Overview
Authors: Maria Luisa Querques, Federica Ravera, Alberto Menegotto, Giacomo Colussi — Nephrology, Dialysis and Renal Transplant Unit, A.O. Ospedale Niguarda-Ca’ Granda, Milan, Italy
"Kidneys" 3 (13) 2015
Date: 2015.09.25
Categories: Nephrology
Sections: Specialist manual
Pompe disease clinical and laboratory diagnostic features
Authors: Пічкур Н.О., Ольхович Н.В., Іванова Т.П., Самоненко Н.В.
Центр орфанних захворювань НДСЛ «Охматдит» МОЗ України, м. Київ, Україна

"Child`s Health" Том 12, №7, 2017
Date: 2017.12.22
Categories: Pediatrics/Neonatology
Sections: Specialist manual

Back to issue