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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
General
genetic disease of muscle (inherited myopathy)
Database Correlations
OMIM 612540
References
OMIM :accession 612540