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.
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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