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Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases.
Neurol India ; 2004 Jun; 52(2): 254-6
Article in English | IMSEAR | ID: sea-121318
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.
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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Staining and Labeling / Biopsy / Female / Humans / Male / Child / Child, Preschool / Adolescent / Muscle, Skeletal / Myopathies, Structural, Congenital Type of study: Diagnostic study Language: English Journal: Neurol India Year: 2004 Type: Article

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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Staining and Labeling / Biopsy / Female / Humans / Male / Child / Child, Preschool / Adolescent / Muscle, Skeletal / Myopathies, Structural, Congenital Type of study: Diagnostic study Language: English Journal: Neurol India Year: 2004 Type: Article