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Genuine myotubular myopathy
Author(s) -
Edström Lars,
Wróblewski Romuald,
Mair Williamg. P.
Publication year - 1982
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880050804
Subject(s) - intracellular , muscle biopsy , pathology , ultrastructure , chemistry , myopathy , muscle fibre , microanalysis , biopsy , electron microscope , biophysics , biology , anatomy , medicine , biochemistry , skeletal muscle , organic chemistry , physics , optics
Two patients, a father and his 14‐year‐old son, were suffering from a facioperoneal syndrome, and muscle biopsy findings were consistent with a myotubular myopathy. The father exhibited central nuclei in most muscle fibers, but his son had typical changes exclusively in hypotrophic type I fibers. The cytochemical and ultrastructural analysis revealed a spectrum of pathological changes typical of myotubular myopathy. Energy‐dispersive electron probe x‐ray microanalysis was performed on 6‐to 12‐μm thick freeze‐dried cryosections visualized in the scanning or scanning transmission mode of electron microscopy. We found a high intracellular sodium and chlorine concentration and a low potassium concentration in comparison with control muscles. These changes pointed in the direction similar to results from human fetal muscle. The changes in the intracellular elemental composition may indicate a membrane pump dysfunction, which might be caused by a partial arrest in muscle fiber maturation.