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January 1966

Myotubular Myopathy: Persistence of Fetal Muscle in an Adolescent Boy

Author Affiliations

From the departments of neurology and pediatrics, University of Pennsylvania, Philadelphia.

Arch Neurol. 1966;14(1):1-14. doi:10.1001/archneur.1966.00470070005001

FOR SEVERAL WEEKS prior to the formation of mature muscle cells, the process of which is virtually completed by the fifth fetal month in humans,1 the cell exists as a myotube. Similar muscle cells were seen in the biopsy of an adolescent boy with a muscle-wasting disorder.

Since this unusual pathological occurrence appears to be unique, it is the purpose of this report to present the clinical, pathological, cytochemical, and electron microscopic studies of this disease. An attempt will also be made to correlate these findings with previously reported studies in myogenesis.

Methods  Biopsy specimens of gastrocnemius muscle were removed on two separate occasions (September 1962 and January 1965) after infiltration of the overlying skin with a local anesthetic. The initial specimen was removed with sutures and fixed in Zenker's solution; the second specimen was removed with a C-shaped clamp designed for that purpose, and fixed in Bouin's solution.