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GENATLAS PHENOTYPE

last update : 10-05-2017

Symbol	AMCN3
Location	6q25.2
Name	arthrogryposis multiplex congenita neurogenic 3
Corresponding gene	SYNE1
Main clinical features	bilateral clubfoot, decreased fetal movements, delay in motor milestones, then progressive motor decline after the first decade mild facial weakness without ophtalmoplegia, deep reflexes were absent; neither pyramidal nor cerebellar involvement was noticed, intelligence normal and CK level normal
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)

. mutation results in an aberrant retention of intron 136 of SYNE1 RNA leading to premature stop codons and the lack of the C-terminal transmembrane domain KASH (Attali 2009)