[Neurogenic muscular lesion presenting a picture of "central core disease"].
A neurogenic lesion has been described in mother and son. In the son there was a prevalence of denervation changes whereas reinervation ones prevailed in the mother. In both, "central cores" were present in aggregations of type-1 fibres. In the authors' opinion the findings represent a neurogenic lesion (also verified clinically and electromyographically), less advanced in the son and more advanced in the mother, ultimately stabilizing to yield a pattern resembling that of the "central core disease".
D000135:Acid Phosphatase / Q000378:metabolism; D000251:Adenosine Triphosphatases / Q000378:metabolism; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D009468:Neuromuscular Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D013577:Syndrome
D000135:Acid Phosphatase; D000251:Adenosine Triphosphatases
Neurogenni svalová léze s obrazem "central core disease".