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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Congenital myasthenic syndromes

Fig. 1

Scheme of the main pathophysiological mechanisms involved in CMS: (1) acetylcholine biosynthesis defects and vesicular transport and fusion defects; (2) AchE deficiency; (3) AchR defects; (4) agrin deficiency; (5) disorders of glycosylation; (6) channelopathies; (7) myopathies with secondary neuromuscular transmission defects; and (8) mitochondrial dysfunction; ChAT: choline acetyltransferase; ErbBR: epidermal growth factor receptor; MASC: muscle-associated specificity component; Lrp4: low-density lipoprotein receptor-related protein 4 [reproduced from Sousa et al. Arq Neuropsquiatr 2016;74:750 [24, 143] [permission applied]

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