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Paper Details

Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.
Neuromuscul Disord
20
2017
Arg1142Gln, Congenital myopathy, Cys375Arg, Nav1, SCN4A, SCN4A mutations, atrophy, axial hypotonia, c.1123T, c.3425G, corona fibres, craniosynostosis, gluteus maximus, adductor magnus and soleus muscles, highly arched palate, lower facial weakness, muscle atrophy, myofibres, proximal muscle weakness, scaphocephaly, scoliosis, synostosis of the sagittal and metopic sutures
Author NameAffiliation
Hernan GonorazkyThe Hospital for Sick Children, University of Toronto
Christian R MarshallThe Hospital for Sick Children, University of Toronto
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Release 1.2