Gender variability in presentation with XXXX : a report of eight @entity1 from the UAE.

@entity1 @entity410 @entity22992 @entity75 @entity16 @entity409 @entity29409 @entity99
INTRODUCTION: @entity29409 is a progressive and often fatal @entity99 caused by a mutation in the @entity22992 ( @entity22992 ) gene involved in mitochondrial DNA replication. OBJECTIVE: We report on eight successive cases from five families. METHODS: Our analysis consisted of case series reports and literature search. RESULTS: The eight @entity1 were from five extended families, all with clinical manifestations of the syndrome. Seven were confirmed by @entity22992 sequence analysis and one died before testing was possible. We observed that whereas the five females presented with advanced @entity99 at the onset of @entity16 , the three males had normal hepatic function well after presentation, with progressive @entity16 . Two of the three males are distant relatives; two of the five females were sisters of two male @entity1 . DISCUSSION: Most authors report the coexistence of both @entity99 at the onset of @entity29409 . It is unusual that all three males in our series had no signs of @entity409 but had advanced neurological signs. CONCLUSION: Initial manifestations in @entity29409 may be gender specific. In males, the condition should be considered in @entity1 with @entity410 and @entity75 , even in the absence of @entity99 .
