About Bioline  All Journals  Testimonials  Membership  News

Neurology India
Medknow Publications on behalf of the Neurological Society of India
ISSN: 0028-3886
EISSN: 0028-3886
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

 en 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

© Copyright 2004 Neurology India.
Alternative site location:

Home Faq Resources Email Bioline
© Bioline International, 1989 - 2023, Site last up-dated on 01-Sep-2022.
Site created and maintained by the Reference Center on Environmental Information, CRIA, Brazil
System hosted by the Google Cloud Platform, GCP, Brazil