Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases.
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2004-06-23
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Congenital fiber type disproportion is a rare type of congenital myopathy which presents as hypotonia, delayed motor milestones and dysmorphic facies. During the past 2 years we received 449 muscle biopsies, of which 4 cases were diagnosed as congenital fiber type disproportion (CFTD). In addition to CFTD, one case also had centronuclear features. Three of them were females and one was a male child. Although rare, it should be considered in the differential diagnosis of childhood muscle diseases. Histochemical staining is necessary for the diagnosis of this entity.
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Sharma MC, Ralte AM, Atri SK, Gulati S, Kalra V, Sarkar C. Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases. Neurology India. 2004 Jun; 52(2): 254-6