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 En
| 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:
1
Index:
IMSEAR
Main subject:
Staining and Labeling
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Biopsy
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Female
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Humans
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Male
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Child
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Child, Preschool
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Adolescent
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Muscle, Skeletal
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Myopathies, Structural, Congenital
Type of study:
Diagnostic_studies
Language:
En
Journal:
Neurol India
Year:
2004
Type:
Article