Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy
Arthrogryposis multiplex congenital, the occurrence of multiple joint contractures at birth, can
in some cases be accompanied by insufficient myelination of peripheral nerves, muscular
hypotonia, reduced tendon reflexes, and respiratory insufficiency. Recently mutations in the
CASPR/CNTN1 complex have been associated with similar severe phenotypes and
CNTNAP1 gene mutations, causing loss of the CASPR protein, were shown to cause
severe, prenatal onset arthrogryposis multiplex congenita in four unrelated families. Here we …
in some cases be accompanied by insufficient myelination of peripheral nerves, muscular
hypotonia, reduced tendon reflexes, and respiratory insufficiency. Recently mutations in the
CASPR/CNTN1 complex have been associated with similar severe phenotypes and
CNTNAP1 gene mutations, causing loss of the CASPR protein, were shown to cause
severe, prenatal onset arthrogryposis multiplex congenita in four unrelated families. Here we …