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Autor/inParikh, Sumit
TitelThe Neurologic Manifestations of Mitochondrial Disease
QuelleIn: Developmental Disabilities Research Reviews, 16 (2010) 2, S.120-128 (9 Seiten)
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Spracheenglisch
Dokumenttypgedruckt; online; Zeitschriftenaufsatz
ISSN1940-5510
DOI10.1002/ddrr.110
SchlagwörterDiseases; Patients; Anatomy; Genetic Disorders; Neurological Organization; Neurological Impairments; Symptoms (Individual Disorders); Metabolism; Clinical Diagnosis; Cognitive Ability; Brain; Epilepsy; Brain Hemisphere Functions; Developmental Delays; Physical Disabilities; Mental Disorders
AbstractThe nervous system contains some of the body's most metabolically demanding cells that are highly dependent on ATP produced via mitochondrial oxidative phosphorylation. Thus, the neurological system is consistently involved in patients with mitochondrial disease. Symptoms differ depending on the part of the nervous system affected. Although almost any neurological symptom can be due to mitochondrial disease, there are select symptoms that are more suggestive of a mitochondrial problem. Certain symptoms that have become sine qua non with underlying mitochondrial cytopathies can serve as diagnostic "red-flags." Here, the typical and atypical presentations of mitochondrial disease in the nervous system are reviewed, focusing on "red flag" neurological symptoms as well as associated symptoms that can occur in, but are not specific to, mitochondrial disease. The multitudes of mitochondrial syndromes are not reviewed in-depth, though a select few are discussed in some detail. (Contains 2 tables.) (As Provided).
AnmerkungenWiley-Blackwell. 111 River Street, Hoboken, NJ 07030-5774. Tel: 800-825-7550; Tel: 201-748-6645; Fax: 201-748-6021; e-mail: subinfo@wiley.com; Web site: http://www3.interscience.wiley.com/browse/?type=JOURNAL
Erfasst vonERIC (Education Resources Information Center), Washington, DC
Update2017/4/10
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