title: Mitochondrial encephalomyopathy: variable clinical expression within a single kindred.
abstract: The clinical manifestations of mitochondrial encephalomyopathy are described in four generations of a single kindred. The age of onset of major neurological disturbance varied from 3-70 years. In some patients, deafness was the only manifestation; in others, recurrent bouts of status epilepticus associated with focal neurological deficits and headache, caused severe disability or death. Examples of all three adult forms of mitochondrial encephalomyopathy: MELAS, MERFF and Kearns Sayre syndrome, were represented within the kindred. Associated features included deafness, short stature, non-insulin-dependent diabetes mellitus, migraine, peptic ulceration and severe constipation. The nt 3243 A-G MELAS mutation was detected in two members of the kindred. This study highlights the diversity of clinical expression of a mitochondrial mutation within a single kindred.
authors.affiliation: Department of Neurology, Westmead Hospital, Sydney, Australia.
authors.forename: D
authors.initials: D
authors.lastname: Crimmins
authors.forename: J G
authors.initials: JG
authors.lastname: Morris
authors.forename: G L
authors.initials: GL
authors.lastname: Walker
authors.forename: C M
authors.initials: CM
authors.lastname: Sue
authors.forename: E
authors.initials: E
authors.lastname: Byrne
authors.forename: S
authors.initials: S
authors.lastname: Stevens
authors.forename: B
authors.initials: B
authors.lastname: Jean-Francis
authors.forename: C
authors.initials: C
authors.lastname: Yiannikas
authors.forename: R
authors.initials: R
authors.lastname: Pamphlett
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001921:Brain / Q000000981:diagnostic imaging; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure; D010375:Pedigree; D014057:Tomography, X-Ray Computed
chemical_list: D004247:DNA