Myotubular Myopathy

TLDR

During fetal development, myotubes form by the fifth month, and similar cells were unexpectedly found in the muscle biopsy of an adolescent with a wasting disorder. This report aims to describe the clinical, pathological, cytochemical, and electron microscopic features of this unique disease and relate them to prior myogenesis studies. Gastrocnemius muscle biopsies were taken twice (1962 and 1965), first with sutures and Zenker’s solution, then with a C‑shaped clamp and Bouin’s solution.

Abstract

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,¹the 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. <h3>Methods</h3> 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.