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    ASIA unversity > 醫學暨健康學院 > 期刊論文 >  Item 310904400/6686

    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/6686

    Title: X-linked recessive myotubular myopathy proven by muscle biopsy
    Authors: Chang-Hai Tsai;Wei-Shih Huang;Fuu-Jen Tsai;Cheng-Chun Lee;Chen SS
    Date: 1996-02
    Issue Date: 2009-12-23 14:21:33 (UTC+8)
    Publisher: Asia University
    Abstract: We report a baby boy, the third child of a nonconsanguineous couple, with congenital myotubular myopathy. At birth, he had generalized hypotonia and respiratory distress. On physical examination, an elongated apathetic face, high-arched palate, bilateral ptosis, funnel chest, frog-leg posture, little spontaneous movement of the limbs and areflexia were observed. A chest x-ray revealed thin ribs and clavicles. The infant died 54 days after birth despite intensive management. The mother, a healthy 32-year-old female, displayed myotubes on muscle biopsy which suggested an X-linked recessive inheritance pattern for myotubular myopathy. This report illustrates the importance of taking a detailed family history as well as a muscle biopsy in the diagnosis of X-linked recessive myotubular myopathy.
    Appears in Collections:[醫學暨健康學院] 期刊論文

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