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GENATLAS PHENOTYPE

last update : 25-10-2016

Symbol	FLCM
Location	12q12
Name	familial lethal congenital myopathy
Other name(s)	Myopathy, congenital, Compton-North
Corresponding gene	CNTN1
Other symbol(s)	MYPCN
Main clinical features	reduced fetal movements detected on ultrasound during the second and third trimester pregnancy was complicated by multiple problems including polyhydramnios and growth retardation death shortly after birth; electron microscopy revealed a moderate number of foci in which small numbers of contiguous sarcomeres were disrupted with disorganization of the Z-band and a reduced number of mitochondria
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)

stop codon at position 296 within the third Ig-like domain, characterized by the secondary loss of beta2-syntrophin and alpha-dystrobrevin from the sarcolemma and central nervous system involvement (contactin-1 expression is mislocalized to the sarcolemmal membrane in response to loss of glycosylated alpha-dystroglycan)