Medknow Publications on behalf of the Neurological Society of India
Vol. 52, No. 2, 2004, pp. 254-256
Bioline Code: ni04077
Full paper language: English
Document type: Research Article
Document available free of charge
Neurology India, Vol. 52, No. 2, 2004, pp. 254-256
© Copyright 2004 Neurology India.
Case Report - Congenital fiber type disproportion: A rare type of congenital myopathy: A report of four cases|
Sharma MC, Ralte AM, Atri SK, Gulati S, Kalra V, Sarkar Chitra
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.
Congenital myopathy, myopathic disorder, muscle, congenital fiber type disproportion, enzyme histochemistry
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