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Type I Fiber Hypotrophy and Central NucleiA Rare Congenital Muscle Abnormality With a Possible Experimental Model
W. King Engel, MD;
Gerald N. Gold, MD;
George Karpati, MD
Arch Neurol. 1968;18(4):435-444.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings. |
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AN UNUSUAL, histochemical abnormality was found in the muscle biopsy of a patient with severe congenital weakness. The pattern of widespread hypotrophy and central nuclei affecting virtually all of the type I muscle fibers and a minority of the type II fibers was accompanied by normal histology of the brain, spinal cord, and peripheral nerves. The difficulty in determining whether this muscle abnormality indicates a major disease of muscle fibers only (a myopathy) or whether it reflects defective motor innervation and, thereby, represents a form of neuropathy will be considered.
Report of a Case
The patient (NIH—061967) was the second child of a healthy, 22-year-old mother. Fetal movements were thought diminished, but the pregnancy was otherwise uneventful, and the mother took no medication. Labor was induced at term. The delivery progressed normally, but the child was born apneic. After three minutes of resuscitation, respirations were present, but he remained
. . . [Full Text PDF of this Article]
Author Affiliations
Bethesda, Md
From the Medical Neurology Branch, National Institutes of Health, Bethesda, Md. Dr. Karpati is a postdoctorate research fellow of the Muscular Dystrophy Association of Canada.
Footnotes
Submitted for publication June 28, 1967; accepted Sept 11.
Reprint requests to Medical Neurology Branch, National Institutes of Health, Bethesda, Md 20014 (Dr. Engel).
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