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dc.contributor.authorOranee Sanmaneechaien_US
dc.contributor.authorSurachai Likasitwattanakulen_US
dc.contributor.authorTumtip Sangruchien_US
dc.contributor.authorIchizo Nishinoen_US
dc.contributor.otherMahidol Universityen_US
dc.contributor.otherNational Institute of Neuroscience, Kodairaen_US
dc.identifier.citationBrain and Development. Vol.37, No.4 (2015), 459-462en_US
dc.description.abstract© 2014 The Japanese Society of Child Neurology. Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) is a rare type of congenital myopathy. It is characterized by early onset of symptoms, mild proximal muscle weakness, hyporeflexia or areflexia, normal serum creatine kinase (CK) levels and myopathic electromyography finding, uniform type 1 fibers, and nonprogression. We report a 2-year-old boy who presented with congenital hypotonia, breathing and feeding difficulty, myopathic facies, proximal muscle weakness, ptosis, total external ophthalmoplegia and delayed motor developmental milestones. Normal serum muscle enzyme and short duration of motor unit potentials on electromyography were noted. Muscle biopsy showed uniformity of type 1 fibers (greater than 99%) and moderate variation in fiber size without specific structural abnormality. Total external ophthalmoplegia may be one of the important clinical manifestations of CNMDU1. It is important to recognize this disorder because it is nonprogressive in nature.en_US
dc.rightsMahidol Universityen_US
dc.titleOphthalmoplegia in congenital neuromuscular disease with uniform type 1 fiberen_US
Appears in Collections:Scopus 2011-2015

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