X-Linked Centronuclear Myopathy

• DOI: 10.1055/s-2003-40603
• Publication Date: 2003-07-21T09:52:28Z
• Authors: Hueng-Chuen Fan; Chuen‐Ming Lee; Horng‐Jyh Harn; Shin‐Nan Cheng; Yeong‐Seng Yuh
• Keywords: Facial weakness; Medical History

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