Chronic Benign Congenital Myopathy: Fingerprint Body Type
نویسندگان
چکیده
منابع مشابه
Fingerprint body myopathy
Key points • Fingerprint body is a rare congenital myopathy. • Only 5 cases of fingerprint myopathy have been described to date. • Fingerprint myopathy is defined by subsarcolemmal inclusions on muscle biopsy; the inclusions have a characteristic lamellar pattern on electron microscopy. • The genetic basis of fingerprint myopathy is not yet known. • An increasing number of protein aggregate myo...
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It has been increasingly apparent in recent years that in addition to cases which fall into recognizable categories of muscle disease, a number of less common disorders occur from time to time which do not correspond to the accepted descriptions. Some of these appear to be metabolic in origin and can be elucidated, at least in part, by modern methods of investigation (McArdle, 1951) while other...
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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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Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness and specific structural changes in muscle fiber. Congenital myopathy with fiber type disproportion (CFTD) is an established disorder of congenital myopathy. CFTD is characterized by non-progressive childhood neuromuscular disorders with a relatively good prognosis and type 1 fiber pr...
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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 c...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 1974
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s031716710001965x