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ENCongenital Myopathy 12 (CMYP12)
Alias:
Myopathy, Congenital, Compton-North
Compton-North Congenital Myopathy
Cmyp12
Mypcn
Congenital Lethal Myopathy, Compton-North Type
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Congenital Myopathy 12, also known as myopathy, congenital, compton-north, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome and generalized epilepsy with febrile seizures plus, type 9. An important gene associated with Congenital Myopathy 12 is CNTN1 (Contactin 1). Affiliated tissues include skeletal muscle, and related phenotypes are hypotonia and muscle weakness
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MALACARDS
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