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Am J Perinatol 2003; 20(4): 173-180
DOI: 10.1055/s-2003-40603
Copyright © 2003 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

X-Linked Centronuclear Myopathy

Hueng-Chuen Fan1 , Chuen-Ming Lee1 , Horng-Jyh Harn2 , Shin-Nan Cheng1 , Yeong-Seng Yuh1
  • 1Department of Pediatrics, Tri-Service General Hospital and National Defense Medical Center, Taipei, Taiwan, Republic of China
  • 2Department of Pathology, Tri-Service General Hospital and National Defense Medical Center, Taipei, Taiwan, Republic of China
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Publication History

Publication Date:
21 July 2003 (online)

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ABSTRACT

We report the cases of two male preterm newborns with X-linked centronuclear myopathy (CNM). This is the most severe type of CNM. Each of them presented with generalized hypotonia, weakness, difficulty in swallowing, and respiratory distress at birth. Physical examination of both newborns revealed long thin face, high-arched palate, mild bilateral ptosis, frog-leg posture, and absence of deep tendon reflex. Diagnosis of the disease was made according to fetal history, family history, muscle histopathology, electron microscopy, and genetic analysis. Subdural hemorrhage of brain and subcapsular hematoma of the liver were found at autopsy of Case 1. The results of molecular analysis of Case 2 and his family favored the diagnosis of X-linked CNM. Molecular studies can be easily performed with only minute amount of DNA of patients, and may help the clinician to predict which patients may be at the risk for medical complications.

KEYWORDS

X-linked centronuclear myopathy - histopathology - molecular analysis

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