Home Page
References OMIM Gene GeneReviews HGMD HGNC
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)