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Quoted phrase not found in phrase index: "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1"
Page 1
Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions.
Moslemi AR, Melberg A, Holme E, Oldfors A. Moslemi AR, et al. Neurology. 1999 Jul 13;53(1):79-84. doi: 10.1212/wnl.53.1.79. Neurology. 1999. PMID: 10408540
OBJECTIVE: To relate signs and symptoms to morphologic changes and presence of multiple mitochondrial DNA (mtDNA) deletions in a patient with autosomal dominant progressive external ophthalmoplegia (adPEO) and mitochondri …
OBJECTIVE: To relate signs and symptoms to morphologic changes and presence of multiple mitochondrial DNA (mtDNA) deletions …
Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia.
Melberg A, Holme E, Oldfors A, Lundberg PO. Melberg A, et al. Neurology. 1998 Jan;50(1):299-300. doi: 10.1212/wnl.50.1.299. Neurology. 1998. PMID: 9443501
We report a 57-year-old man with autosomal dominant progressive external ophthalmoplegia and multiple mtDNA deletions who developed acute rhabdomyolysis provoked by alcohol. A repeated alcohol intake resulted in a 57-fold increase in seru …
We report a 57-year-old man with autosomal dominant progressive external ophthalmoplegia and multiple mtD …
Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions.
Wilcox RA, Churchyard A, Dahl HH, Hutchison WM, Kirby DM, Thyagarajan D. Wilcox RA, et al. Mov Disord. 2007 May 15;22(7):1020-3. doi: 10.1002/mds.21416. Mov Disord. 2007. PMID: 17357142
We report a patient with an autosomal dominant chronic progressive external ophthalmoplegia phenotype associated with multiple mtDNA deletions in muscle from a family in which linkage analysis excluded mutations in DNA polym …
We report a patient with an autosomal dominant chronic progressive external ophthalmoplegia phenot …
Analysis of mtDNA deletions in muscle by in situ hybridization.
Vu TH, Tanji K, Pallotti F, Golzi V, Hirano M, DiMauro S, Bonilla E. Vu TH, et al. Muscle Nerve. 2000 Jan;23(1):80-5. doi: 10.1002/(sici)1097-4598(200001)23:1<80::aid-mus10>3.0.co;2-v. Muscle Nerve. 2000. PMID: 10590409 Clinical Trial.
We compared the distribution of deleted mitochondrial DNA (Delta-mtDNA) in skeletal muscle of a patient with autosomal recessive (AR) and another with autosomal dominant (AD) progressive external ophthalmoplegia (PEO) …
We compared the distribution of deleted mitochondrial DNA (Delta-mtDNA) in skeletal muscle of a patient with autosom …
An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.
Kaukonen JA, Amati P, Suomalainen A, Rötig A, Piscaglia MG, Salvi F, Weissenbach J, Fratta G, Comi G, Peltonen L, Zeviani M. Kaukonen JA, et al. Am J Hum Genet. 1996 Apr;58(4):763-9. Am J Hum Genet. 1996. PMID: 8644740 Free PMC article.
Autosomal dominant progressive external ophthalmoplegia (adPEO) is a disorder characterized by ptosis, progressive weakness of the external eye muscles, and general muscle weakness. The patients have multiple deletions of mt …
Autosomal dominant progressive external ophthalmoplegia (adPEO) is a disorder characterized by ptosis, …