Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease
详细信息 查看全文
- 作者：Manoj P. Menezesa ; b ; manoj.menezes@health.nsw.gov.au" class="auth_mail" title="E-mail the corresponding author ; Shamima Rahmanc ; d ; Kaustuv Bhattacharyab ; e ; Damian Clarkf ; John Christodouloub ; e ; 1 ; Carolyn Ellawayb ; e ; Michelle Farrarg ; h ; Matthew Pitti ; Hugo Sampaioh ; Tyson L. Warej ; Yehani Wedatilakec ; d ; David R. Thorburnk ; l ; Monique M. Ryanl ; m ; Robert Ouvriera ; b
- 关键词：Mitochondrial disease ; Childhood ; Neuropathy ; Demyelinating ; Mitochondrial DNA
- 刊名：Mitochondrion
- 出版年：2016
- 出版时间：September 2016
- 年：2016
- 卷：30
- 期：Complete
- 页码：162-167
- 全文大小：285 K
文摘
- •
POLG syndromes are associated with a sensory ataxic neuropathy.
- •
SURF1 mutations are associated with a demyelinating neuropathy.
- •
PDHc deficiency is associated with an axonal neuropathy.
- •
Peripheral neuropathy is uncommon in those with mtDNA mutations.
- •
The neuropathy associated with mitochondrial disease is not length-dependent.