منابع مشابه
Benign congenital myopathy with myasthenic features.
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...
متن کاملFamilial benign copper deficiency.
Hypocupraemia with normal caeruloplasmin levels was found in a 21-month-old boy admitted to hospital because of repeated seizures and failure to thrive. He had blonde curly hair, spurring of the femora and tibiae, and mild anaemia, but his mental development, electroencephalogram, and structure of the hair on microscopical examination were normal. There was a general improvement in his conditio...
متن کاملDifferent clinical aspects of debrancher deficiency myopathy.
OBJECTIVE To characterise the main clinical phenotypes of debrancher deficiency myopathy and to increase awareness for this probably underdiagnosed disorder. METHODS The diagnosis of debrancher deficiency was established by laboratory tests, EMG, and muscle and liver biopsy. RESULTS Four patients with debrancher deficiency myopathy were identified in the Tyrol, a federal state of Austria wi...
متن کاملCollagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.
To gain insight into the function of type VI collagen, the col6a1 gene was inactivated by targeted gene disruption in the mouse. The homozygous mutants lacked collagen VI in the tissues and showed histological features of myopathy such as fiber necrosis and phagocytosis and a pronounced variation in the fiber diameter. Muscles also showed signs of stimulated regeneration of fibers. Necrotic fib...
متن کاملAutosomal recessive lipid storage myopathy (probable carnitine deficiency).
Two sisters died at the age of 17 and 19, respectively, of a myopathy with exacerbations and remissions characterised by pain and weakness of muscles which ended fatally with lactic acidosis and respiratory failure. The clinical picture was very similar to that described in some cases of carnitine deficiency and the histochemical finding of many lipid-filled vacuoles in muscle fibres and the el...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2011
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-25-2-6