Abstract:
:This article describes a 37-year-old woman with progressive external ophthalmoplegia, peripheral neuropathy, and chronic intractable diarrhea. Laboratory studies disclosed lactic acidosis, ragged red fibers lacking cytochrome c oxidase, high-normal muscular mitochondrial enzymes, demyelinating neuropathy, leukoencephalopathy and multiple mitochondrial DNA deletions. This is the fourth patient described with this clinical syndrome, which represents a separate entity among multisystemic mitochondrial disorders. The patient described here is the first with this syndrome to have multiple mitochondrial DNA deletions.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Uncini A,Servidei S,Silvestri G,Manfredi G,Sabatelli M,Di Muzio A,Ricci E,Mirabella M,Di Mauro S,Tonali Pdoi
10.1002/mus.880170616subject
Has Abstractpub_date
1994-06-01 00:00:00pages
667-74issue
6eissn
0148-639Xissn
1097-4598journal_volume
17pub_type
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