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

Konstantina Kosma; Anastasios Mitrakos; Christalena Sofokleous; George Papadimas; Helena Fryssira; Sofia Kitsiou-Tzeli; Maria Tzetis

doi:10.1055/s-0038-1676513

Neuropediatrics, Inhaltsverzeichnis

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

Autor*innen

Konstantina Kosma

¹Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
Anastasios Mitrakos

¹Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
Christalena Sofokleous

¹Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece

²Medical 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

³1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece
Helena Fryssira

¹Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
Sofia Kitsiou-Tzeli

¹Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
Maria Tzetis

¹Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece

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

Volltext

Referenzen

References
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