Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name.

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 Nerve

journal_title

Muscle & nerve

authors

Uncini A,Servidei S,Silvestri G,Manfredi G,Sabatelli M,Di Muzio A,Ricci E,Mirabella M,Di Mauro S,Tonali P

doi

10.1002/mus.880170616

subject

Has Abstract

pub_date

1994-06-01 00:00:00

pages

667-74

issue

6

eissn

0148-639X

issn

1097-4598

journal_volume

17

pub_type

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