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New Congenital Myopathy With Crystalline Intranuclear Inclusions

Edwin H. Jenis, MC; Richard R. Lindquist, MC; Robert C. Lister, MC
Arch Neurol. 1969;20(3):281-287. doi:10.1001/archneur.1969.00480090069011.
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THE varieties of congenital myopathy include muscular glycogenosis, megaconial and pleoconial myopathies, congenital muscular dystrophy, central core disease, benign congenital hypotonia, and nemaline myopathy.1 The purpose of this communication is to report an infant dying with a congenital myopathy which was characterized by a morphologic feature not previously described in any known case. Skeletal muscle from this patient contained numerous eosinophilic intranuclear crystalline inclusions which were seen on routine hematoxylin and eosin stained sections. Special stains and electron microscopic examination revealed additional smaller crystals within the sarcoplasm and occasionally arising from Zbands.

Report of a Case  The patient, a 2-week-old white girl, was admitted to Walter Reed General Hospital on Nov 7, 1967. She was the product of a normal pregnancy, labor, and delivery and was born to a 21-year-old gravida 1, para 0, healthy woman. At birth the infant had spontaneous respirations but was lethargic, hypotonic, and had

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