Neonatal myotubular myopathy with a probable X-linked inheritance : observations on a new family with a review of the literature.

M. Bruyland, Ingeborg Liebaers, Yvan Vandenplas, Linda De Meirleir, L. Sacre, Jean-Jacques Martin

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

During the 3 weeks of his life, an infant born at term presented pronounced hypotonia, areflexia and generalized paresis with severe respiratory and feeding problems. He was the fourth male in two generations to die in the perinatal period, therefore suggesting an X-linked inheritance. Post-mortem examination revealed a centronuclear or myotubular myopathy. The difficulty in distinguishing the signs due to muscle disorder from those due to hypoxaemic encephalopathy is stressed. Infants with centronuclear myopathy have in any case a high risk for hypoxaemic encephalopathy. The literature concerning neonatal centronuclear myopathy with X-linked inheritance is reviewed.
Original languageEnglish
Pages (from-to)220-222
Number of pages3
JournalJ Neurol
Volume231
Publication statusPublished - 1984

Keywords

  • neonatal myotubular myopathy

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