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Alfred J. Spiro, MD; John W. Prineas, MB, MRCP; Cyril L. Moore, PhD

Arch Neurol. 1970;22(3):259-269.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

DESPITE the frequent occurrence of morphological changes in mitochondria in many types of human neuromuscular disorders,^1-14 several myopathies have been delineated in which abnormalities of this organelle were considered to be of major significance.^15-25 In this report we describe clinical, morphological, and biochemical studies in an adolescent with a congenital myopathy in which mitochondrial and lipid abnormalities justify its inclusion in this latter group of disorders. This case, however, has distinctive features which serve to differentiate it from those already reported.

Report of a Case

A 13-year-old boy (Fig 1) was referred to the Neuromuscular Clinic of the Bronx Municipal Hospital Center for reevaluation of muscle weakness which had been present since birth.

This boy was the product of his mother's second pregnancy, which was complicated by vaginal bleeding during the first trimester. During the remainder of her pregnancy, she was confined to bed and diethylstilbestrol was . . . [Full Text PDF of this Article]

Author Affiliations
Bronx, NY

From the Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY.

Footnotes
Submitted for publication Aug 13, 1969; accepted Oct 20.

Reprint requests to Albert Einstein College of Medicine, Eastchester Rd and Morris Park Ave, Bronx, NY 10461 (Dr. Spiro).

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