Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosis

BMC Neurology

Table 3 Ultrastructural features of myopathology of the four cerebrotendinous xanthomatosis patients

	I-1	I-2	II-1	II-2
Changes of mitochondria
subsacrolemmal accumulation	+++	+++	++	+
change in size and shape	+++	++	++	+
increase in amount	+++	++	++	+
Changes of membranous system
triads proliferation, swollen	-	++	+	-
increased amount of sacroplasmic reticulum	+	++++	-	+++
laminated bodies	-	-	-	++
membranous debris	+++	++	++	++
Increased amount of lipid droplets	+	++	+++	++++
Increased amount of lipofuscin	+	+	+	++
Increased amount of glycogen	++	++	+	++

ISSN: 1471-2377