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Journal of Child Neurology
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Congenital Muscle Fiber-Type Disproportion in a Patient With Congenital Central Hypoventilation Syndrome Due to PHOX2B Mutations

Aneal Khan, MSc, MD, FRCPC, FCCMG

Division of Pediatrics, Department of Medical Genetics, The University Calgary, Alberta Chidren's Hospital, aneal.khan{at}telus.net

Harvey B. Sarnat, MSc, MD, FRCPC

Division of Pediatric Neurology, Department of Neurology, The University of Calgary, Alberta Children's Hospital, Canada

Renee Spaetgens, MSc, MD, FRCPC

Division of Pediatrics, Department of Medical Genetics, The University Calgary, Alberta Chidren's Hospital

Increasing numbers of genetic origins are being reported for congenital muscle fiber-type disproportion. Most of these identified disorders are genetic myopathies. This is the first case report (to our knowledge) demonstrating congenital central hypoventilation syndrome due to PHOX2B mutations with congenital muscle fiber-type disproportion. The muscle histopathologic findings in the patient showed no changes of disuse atrophy and suggest that PHOX2B mutations may have an additional role in muscle development, contributing to respiratory failure in congenital central hypoventilation syndrome.

Key Words: congenital muscle fiber-type disproportion • congenital central hypoventilation syndrome • PHOX2B

Journal of Child Neurology, Vol. 23, No. 7, 829-831 (2008)
DOI: 10.1177/0883073808314895
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