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X-linked myotubular myopathy with fatal neonatal asphyxia

Pediatric Department of the Free University Hospital and the Muscle Research Centre, Neurological Clinic, University of Amsterdam, The Netherlands.

A second family with X-linked myotubular myopathy is described. The clinical picture includes decreased fetal movements; hydramnios, in at least three cases, probably resulting from insufficient swallowing in utero; and asphyxia at birth. In three autopsy cases many myotubes were found in the muscle tissue. In five definite female carriers, muscle biopsy revealed changes, including myotubes in four. This family probably is not related to the earlier described family with X-linked myotubular myopathy, from which it differs in its 100 percent fatal outcome in the neonatal period, as compared with 25 percent in the earlier described family. A most important finding, in both families, is the possibility of recognizing clinically healthy female carriers by muscle biopsy.

This study was supported by a grant from the Prinses Beatrix Fonds.

Received for publication October 21, 1974.

Dr. Berth's address is Pediatric Department, Free University Hospital, de Boelelaan 1117, Post Office Box 7057, Amsterdam 1011, The Netherlands.

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