| Autor: |
Sharma MC; Department of Pathology, All India Institute of Medical Sciences, New Delhi, India., Ralte AM, Atri SK, Gulati S, Kalra V, Sarkar C |
| Jazyk: |
angličtina |
| Zdroj: |
Neurology India [Neurol India] 2004 Jun; Vol. 52 (2), pp. 254-6. |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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