Mitochondrial DNA depletion in progressive external ophthalmoplegia caused byPOLG1mutations
نویسندگان
چکیده
منابع مشابه
Mitochondrial myopathy with chronic progressive external ophthalmoplegia.
Introduction Mitochondrial diseases are a diverse group with multisystem involvement caused by structural, biochemical or genetic derangement of mitochondria. Cerebral neurones and myocytes which require a high yield of energy are particularly vulnerable to mitochondrial dysfunction and neuromuscular manifestations are common in mitochodrial disorders. We report two cases of mitochondrial myopa...
متن کاملChronic Progressive External Ophthalmoplegia
S U M M A R Y — Th i s s tudy quantif ies the m a i o r e lect ron m i c r o s c o p i c changes in l imb muscle b iops ies f r o m 31 out of 34 pat ients wi th the s y n d r o m e of ch ron ic p rogress ive external oph tha lmopleg ia . Pat ients w e r e d iv ided into three cl inical g r o u p s — A ) 10 sporad ic cases wi th musc l e weakness o n l y ; B ) 9 familial cases w i t h musc le we...
متن کاملThymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Autosomal-inherited progressive external ophthalmoplegia (PEO) is an adult-onset disease characterized by the accumulation of multiple mitochondrial DNA (mtDNA) deletions in post-mitotic tissues. Mutations in six different genes have been described to cause the autosomal dominant form of the disease, but only mutations in the DNA polymerase gamma gene are known to cause autosomal recessive PEO ...
متن کاملMutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
Despite being a canonical presenting feature of mitochondrial disease, the genetic basis of progressive external ophthalmoplegia remains unknown in a large proportion of patients. Here we show that mutations in SPG7 are a novel cause of progressive external ophthalmoplegia associated with multiple mitochondrial DNA deletions. After excluding known causes, whole exome sequencing, targeted Sanger...
متن کاملChronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient.
PURPOSE Mitochondrial T9957C mutations have been reported in patients with nonarteritic ischemic optic neuropathy and seizures and in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. However, thus far, this mutation has not been reported in patients with chronic progressive external ophthalmoplegia (CPEO). CASE REPORT Here we report a female patient with ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Acta Neurologica Scandinavica
سال: 2009
ISSN: 0001-6314,1600-0404
DOI: 10.1111/j.1600-0404.2009.01212.x