Neuropediatrics 2005; 36(4): 246-251
DOI: 10.1055/s-2005-865773
Original Article

Georg Thieme Verlag KG Stuttgart · New York

Congenital Myopathy with Arrest of Myogenesis Prior to Formation of Myotubes

U.-P. Ketelsen1 , B. Brand-Saberi2 , B. Uhlenberg3 , M. Wagner4 , H.-G. Laberke4 , H. Omran1
  • 1Department of Neuropediatrics and Muscle Disorders, Neuromuscular Pathology, Albert-Ludwigs-University, Freiburg, Germany
  • 2Department of Anatomy, Albert-Ludwigs-University, Freiburg, Germany
  • 3Department of Neuropediatrics, Charité, Humboldt University, Berlin, Germany
  • 4Olga Hospital, Stuttgart, Germany
Further Information

Publication History

Received: January 31, 2005

Accepted after Revision: May 15, 2005

Publication Date:
22 August 2005 (online)

Abstract

We report a novel type of congenital myopathy, which is characterized by an early arrest of muscle formation prior to formation of myotubes. A female infant born prematurely at 32 weeks of gestational age died after six weeks of continuous ventilatory support. Various muscle specimens including quadriceps, deltoid, pectoral, neck, psoas, tongue, and diaphragm musculature were studied. Light and electron microscopy revealed well-demarcated fascicular structures interspersed with undifferentiated, mononuclear myogenic cells. Multinucleated myotubes and muscle fibres were not detectable, pointing towards a defect prior to the generation of myotubes during myogenesis. Immunohistochemistry identified the absence of dystrophin, N-CAM, MyoD and myogenin expression in these myogenic cells, compatible with a block of the complex transcriptional network necessary for correct embryonic muscle formation at an early stage of muscle development. These myopathological findings were absent in cardiac muscle, indicating that the defect exclusively affects skeletal muscle formation.

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MD Heymut Omran

Department for Pediatric Neurology and Muscle Disorders
University Hospital

Mathildenstrasse 1

79106 Freiburg

Germany

Email: omran@kikli.ukl.uni-freiburg.de

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