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Fatal Nemaline Myopathy in Infancy

Published online by Cambridge University Press:  18 September 2015

Joseph B. McMenamin ,
Bernadette Curry ,
Glen P. Taylor ,
Laurence E. Becker  and
E. Gordon Murphy
Joseph B. McMenamin
Affiliation:
Departments of Paediatrics and Pathology (Neuropathology), University of Toronto and the Division of Neurology, The Hospital for Sick Children, Toronto
Bernadette Curry
Affiliation:
Departments of Paediatrics and Pathology (Neuropathology), University of Toronto and the Division of Neurology, The Hospital for Sick Children, Toronto
Glen P. Taylor
Affiliation:
Departments of Paediatrics and Pathology (Neuropathology), University of Toronto and the Division of Neurology, The Hospital for Sick Children, Toronto
Laurence E. Becker
Affiliation:
Departments of Paediatrics and Pathology (Neuropathology), University of Toronto and the Division of Neurology, The Hospital for Sick Children, Toronto
E. Gordon Murphy*
Affiliation:
Departments of Paediatrics and Pathology (Neuropathology), University of Toronto and the Division of Neurology, The Hospital for Sick Children, Toronto
*
Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8
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Abstract:

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The clinical and neuropathological findings in two infants with congenital nemaline myopathy are described. One patient presented at birth with severe hypotonia, respiratory failure and contractures and died shortly after the neonatal period. The other presented at age two months with hypotonia and, following a period of clinical stability, died at age seven months from respiratory failure. Pathological findings in the fatal neonatal case revealed numerous rod bodies in lingual, pharyngeal, diaphragm and limb muscles, correlating with clinical findings. Significant, but less rod body involvement was found in the diaphragm and limb muscles of the second patient. Although a neural basis has been suggested for this disorder, no abnormalities were found in the central nervous system or in the peripheral nerves of these two severely affected patients.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 11 , Issue 2 , May 1984 , pp. 305 - 309
Copyright
Copyright © Canadian Neurological Sciences Federation 1984

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