Congenital fibre type disproportion with unusual clinico-pathologic manifestations.
نویسندگان
چکیده
منابع مشابه
Congenital fibre type disproportion myopathy
Nine children with congenital fibre type disproportion (CFTD) are described. Their muscle biopsies contained type 1 fibres which were smaller than the largest type 2 fibres by at least 13.5%. Attention is drawn to the variable natural history of this disorder which generally carries a good prognosis but may sometimes be associated with fatal respiratory problems. For important therapeutic, gene...
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Congenital muscle fiber-type disproportion is a condition that can be defined only in the muscle biopsy by 2 obligatory criteria of “disproportion”: (1) a massive type I myofiber predominance of 80% or more, and (2) myofibers of type I are uniformly smaller than normal for age by 2 standard deviations or more, but are not necessarily angular or rounded as in myofiber atrophy. Internal sarcolemm...
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Nine children with congenital fibre type disproportion (CFTD) are described. Their muscle biopsies contained type 1 fibres which were smaller than the largest type 2 fibres by at least 13.5%. Attention is drawn to the variable natural history of this disorder which generally carries a good prognosis but may sometimes be associated with fatal respiratory problems. For important therapeutic, gene...
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A two year and four month old boy who was the second child of a non-consanguineous marriage was investigated for delayed motor mile stones and dysarthria. The patient had an uneventful antenatal history. He started walking at the age of two years. There was no progressive proximal muscle weakness. Examination showed long facies and a squint. Muscle tone in both upper and lower limbs was mildly ...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1983
ISSN: 0022-3050
DOI: 10.1136/jnnp.46.2.175