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Please use this identifier to cite or link to this item: http://hdl.handle.net/1807/3273

Title: Congenital fiber type disproportion: A rare type of congenital myopathy: A report of four cases
Authors: Sharma, M. C.
Ralte, A. M.
Atri, S. K.
Gulati, S.
Kalra, V.
Sarkar, C.
Keywords: Neurology
Congenital myopathy, myopathic disorder, muscle, congenital fiber type disproportion, enzyme histochemistry ni04077
Issue Date: Apr-2004
Publisher: Medknow Publications on behalf of the Neurological Society of India
Citation: Neurology India 52(2)
Abstract: 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.
URI: http://bioline.utsc.utoronto.ca/archive/00002190/01/ni04077.pdf
Appears in Collections:Bioline International Legacy Collection

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