Familial visceral myopathy associated with a mitochondrial myopathy.
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چکیده
منابع مشابه
Familial visceral myopathy associated with a mitochondrial myopathy.
A 27 year old man with intestinal pseudo-obstruction who developed parenteral nutrition induced hyperlipidaemia and who also had ophthalmoplegia and an undifferentiated myopathy is described. Histological examination of biopsy specimens and molecular analysis show that this patient had both familial visceral myopathy and a mitochondrial myopathy, suggesting that a mitochondrial DNA mutation is ...
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An extended family with chronic intestinal pseudo-obstruction which affected 11 of 54 members was studied. Patients presented with recurrent intestinal obstruction in childhood or adolescence: eight of the 11 died before the age of 30. Pedigree analysis showed four consanguineous marriages. The patients were all in the fifth generation and had established an autosomal recessive mode of inherita...
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ژورنال
عنوان ژورنال: Gut
سال: 1993
ISSN: 0017-5749
DOI: 10.1136/gut.34.2.279