Compton-North congenital myopathy

Pathology

• secondary loss of beta2-syntrophin & alpha-dystrobrevin from the muscle sarcolemma
• central nervous system involvement

Genetics

• autosomal-recessive
• associated with defects in CNTN1

Clinical manifestations

• lethal form of congenital onset muscle weakness
• fetal akinesia

More general terms

• genetic disease of muscle (inherited myopathy)

Database

• OMIM: https://mirror.omim.org/entry/612540