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Carlos F. Torres, MD; Robert C. Griggs, MD; James P. Goetz, MD

Arch Neurol. 1985;42(10):1011-1014.

Abstract
• We studied a boy with severe infantile centronuclear myopathy (CNM) and his mother with clinical, electrophysiological, and pathological signs of skeletal muscle, peripheral nerve, and brain-stem disorder, and we believe that her condition represents a variation of her son's disease. His brother had similar symptoms and died at 4 days of age. The occurrence of this syndrome in a symptomatic mother and two severely affected sons suggests an autosomal dominant inheritance with variable expressivity. To our knowledge, this inheritance pattern has not been previously reported in severe (fatal) infantile CNM. The different courses in the mother and her offspring may be manifestations of a single or separate abnormal gene causing alteration of muscle and nerve maturation.

Author Affiliations
From the Departments of Pediatrics (Drs Torres and Goetz) and Neurology (Drs Torres and Griggs), University of Rochester (NY) School of Medicine and Dentistry.

Footnotes
Accepted for publication June 13, 1984.

Presented in part in a poster exhibit at the 31st annual meeting of the American Academy of Neurology, Chicago, April 27, 1979.

Reprint requests to Department of Pediatrics, Strong Memorial Hospital, 601 Elmwood Ave, Box 631, Rochester, NY 14642 (Dr Torres).

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