SLC25A4andC10ORF2Mutations in Autosomal Dominant Progressive External Ophthalmoplegia
نویسندگان
چکیده
منابع مشابه
SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia
BACKGROUND AND PURPOSE Progressive external ophthalmoplegia (PEO) with Mendelian inheritance is a heterogeneous group of diseases associated with multiple deletions of mitochondrial DNA (mtDNA), which results from the disturbed replication and maintenance of mtDNA secondary to the mutations of nuclear genes including POLG, SLC25A4, C10ORF2, POLG2, OPA1, and RRM2B. The aim of this study was to i...
متن کاملTwo families with autosomal dominant progressive external ophthalmoplegia.
OBJECTIVES We report here the clinical and genetic features of two new families with autosomal dominant progressive external ophthalmoplegia (adPEO). PATIENTS AND METHODS The examination of index patients included a detailed clinical characterisation, histological analysis of muscle biopsy specimens, and genetic testing of mitochondrial and nuclear DNA extracted from muscle and leucocytes. ...
متن کاملLocus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).
Congenital external ophthalmoplegia (CFEOM) is an uncommon autosomal dominant condition that has previously been mapped to the pericentromeric region of chromosome 12 in seven families with no evidence of locus heterogeneity. We report three families with typical CFEOM. One family does not map to this region of chromosome 12 or to other chromosomal locations implicated in disorders of lid or oc...
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 کاملSuppression of mitochondrial DNA instability of autosomal dominant forms of progressive external ophthalmoplegia-associated ANT1 mutations in Podospora anserina.
Maintenance and expression of mitochondrial DNA (mtDNA) are essential for the cell and the organism. In humans, several mutations in the adenine nucleotide translocase gene ANT1 are associated with multiple mtDNA deletions and autosomal dominant forms of progressive external ophthalmoplegia (adPEO). The mechanisms underlying the mtDNA instability are still obscure. A current hypothesis proposes...
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ژورنال
عنوان ژورنال: Journal of Clinical Neurology
سال: 2011
ISSN: 1738-6586
DOI: 10.3988/jcn.2011.7.1.25