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Neuropediatrics 2019; 50(01): 061-063
DOI: 10.1055/s-0038-1676513
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array

Konstantina Kosma
1   Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
,
Anastasios Mitrakos
1   Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
,
Christalena Sofokleous
1   Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
2   Medical School, National and Kapodistrian University of Athens, Research Institute for the Study of Genetic and Malignant Diseases in Childhood, “Aghia Sophia” Children's Hospital, Athens, Greece
,
George Papadimas
3   1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece
,
Helena Fryssira
1   Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
,
Sofia Kitsiou-Tzeli
1   Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
,
Maria Tzetis
1   Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
› Author Affiliations
Further Information

Publication History

24 January 2018

29 October 2018

Publication Date:
12 December 2018 (online)

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Abstract

X-linked myotubular myopathy (XLMTM) is a rare inherited neuromuscular disorder associated with mutations in the MTM1 gene on the Xq28 region. We report a severely affected girl with XLMTM, caused by maternally inherited 661 kb Xq28 microduplication identified by chromosomal microarray analysis and confirmed also on DNA from muscle biopsy with a custom-designed X-chromosome-specific microarray. X-inactivation analysis revealed a skewed inactivation pattern on the proband's muscle biopsy. Muscle biopsy histopathology was indicative of increased variability in fiber diameter, marked and diffuse endomysial proliferation of adipose and connective tissues, as well as predominance of type 1 fibers.

Keywords

X-linked myotubular myopathy - Xq28 duplication - MTM1 gene
 

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