Compton–North congenital myopathy

'Compton–North congenital myopathy' can also refer to...


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An autosomal recessive myopathy, lethal within the first year of life. It is caused by mutation in contactin-1 and characterized by a secondary loss of β2-syntrophin and α-dystrobrevin from the muscle sarcolemma, central nervous system involvement, and fetal akinesia.

Subjects: Medicine and Health.

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