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CLINICAL FEATURES OF MITOCHONDRIAL MYOPATHY
Author(s) -
BYRNE E.,
BLUMBERGS P. C.,
HALLPIKE J. F.,
MUKHERJEE T. M.
Publication year - 1983
Publication title -
australian and new zealand journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 0004-8291
DOI - 10.1111/j.1445-5994.1983.tb04480.x
Subject(s) - mitochondrial myopathy , kearns–sayre syndrome , medicine , external ophthalmoplegia , myopathy , mitochondrial dna , retinitis pigmentosa , pathological , chronic progressive external ophthalmoplegia , mitochondrial disease , pathology , genetics , ophthalmology , biology , retinal , gene
Five patients with mitochondrial myopathy are discussed. Two presented with progressive external ophthalmoplegia (CPEO), one with CPEO and retinitis pigmentosa, and two with Kearns‐Sayre syndrome. Ragged red fibres and intra‐mitochondrial para‐crystalline inclusions were found in each case. The clinical heterogeneity of the mitochondrial myopathy syndrome in the presence of identical pathological changes in skeletal muscle is emphasised.