myopathy—congenital—Compton-North

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myopathy—congenital—Compton-North2016-11-27T13:08:05+00:00

myopathy—congenital—Compton-North   

NEUROLOGY

A lethal autosomal-recessive myopathy (OMIM:612540) characterised by severe hypotonia and skeletal, bulbar, and respiratory weakness, resulting in death in the first year of life, with a secondary loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma, CNS involvement, and fetal akinesia.

Molecular pathology Defects of CNTN1, which encodes a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that mediates cell surface interactions during nervous system development, cause myopathy—congenital—Compton-North. 

Synonym Compton-North congenital myopathy

References http://www.uniprot.org/uniprot/Q12860

http://www.omim.org/entry/612540

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