X-linked neonatal myotubular myopathy.

Abstract:

:We have described a family with X-linked myotubular myopathy that was clinically manifest in the neonatal period and compared it with the clinical picture and course of the disease in similar reported cases. Clinical expression of the disease in the newborn period is not always lethal. Despite a fatal outcome in the family reported here, a review of the literature indicates that aggressive treatment of short-term respiratory insufficiency at birth is justified.

journal_name

South Med J

journal_title

Southern medical journal

authors

Giacoia GP,Hale JE

doi

10.1097/00007611-198409000-00035

subject

Has Abstract

pub_date

1984-09-01 00:00:00

pages

1182-5

issue

9

eissn

0038-4348

issn

1541-8243

journal_volume

77

pub_type

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