Congenital myasthenic syndrome: a brief review.
Curitiba, Brazil. In Pediatr Neurol, 2012
Therefore, genetic testing may be necessary to identify specific mutations in CHAT, COLQ, LAMB2, CHRNA, CHRNB, CHRND, CHRNE, CHRNG, RAPSN, DOK7, MUSK, AGRN, SCN4A, GFPT1, or PLEC1 genes.
[Congenital myasthenic syndromes].
Nagoya, Japan. In Rinsho Shinkeigaku, 2011
Third, collagen Q (ColQ) anchors acetylcholinesterase (AChE) to the synaptic basal lamina and mutations in COLQ lead to endplate AChE deficiency.
Cholinesterases regulation in the absence of ColQ.
Paris, France. In Chem Biol Interact, 2010
AChE, BChE and PRiMA mRNA level modifications found in the absence of ColQ cannot compensate for the physiological defects observed at the ColQ-deficient neuromuscular junction.