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1 efined mitochondrial disease and progressive external ophthalmoplegia.
2 genetic defect in patients with progressive external ophthalmoplegia.
3 gressive Alpers syndrome to mild progressive external ophthalmoplegia.
4 ears, followed by development of progressive external ophthalmoplegia.
5 ases such as Alpers syndrome and progressive external ophthalmoplegia.
6 ults presented with myopathy and progressive external ophthalmoplegia.
7 associated with certain types of progressive external ophthalmoplegia.
8 sponsible for autosomal dominant progressive external ophthalmoplegia.
9 (cardio)myopathy and late-onset progressive external ophthalmoplegia.
10 t parkinsonism in the absence of progressive external ophthalmoplegia.
11 s in droopy eyelids (ptosis) and progressive external ophthalmoplegia.
12 s in droopy eyelids (ptosis) and progressive external ophthalmoplegia.
13 gaze paresis that sometimes evolved to total external ophthalmoplegia.
14 ary optic neuropathy and chronic progressive external ophthalmoplegia.
15 ateral ptosis and a restrictive infraductive external ophthalmoplegia.
16 me gene cause autosomal dominant progressive external ophthalmoplegia (adPEO) with multiple mtDNA del
17 isoform cause autosomal dominant progressive external ophthalmoplegia (adPEO), cardiomyopathy, and my
18 an Ant1 cause autosomal dominant Progressive External Ophthalmoplegia (adPEO), mitochondrial myopathy
21 rial disorders including Alpers, progressive external ophthalmoplegia and ataxia-neuropathy syndrome.
23 al nystagmus, autosomal dominant progressive external ophthalmoplegia, and oculopharyngeal muscular d
24 ons in SPG7 are a novel cause of progressive external ophthalmoplegia associated with multiple mitoch
25 e adult-onset autosomal-dominant progressive external ophthalmoplegia associated with multiple mitoch
26 e onset, gender, family history, progressive external ophthalmoplegia at clinical presentation, heari
27 ation of ANTs is associated with progressive external ophthalmoplegia, cardiomyopathy, nonsyndromic i
28 ies affected by dominant chronic progressive external ophthalmoplegia (CPEO) complicated by parkinson
32 ubgroup of mitochondrial chronic progressive external ophthalmoplegia (CPEO)-plus disorders associate
33 h ragged red fibers, and chronic progressive external ophthalmoplegia deletion syndromes, with ragged
35 follow-up of autosomal dominant progressive external ophthalmoplegia due to the p.R357P gene mutatio
37 ar ataxia-epilepsy syndrome, and progressive external ophthalmoplegia, each with vastly different cli
38 to study 68 adult patients with progressive external ophthalmoplegia either with or without multiple
39 pathy, peripheral neuropathy and progressive external ophthalmoplegia from the third decade of life o
40 racterized clinically by ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility,
41 ore the age of 30 years; ptosis; progressive external ophthalmoplegia; gastrointestinal dysmotility;
42 n cis in patients primarily with progressive external ophthalmoplegia generate T251I and P587L amino
44 ial diseases such as adult-onset progressive external ophthalmoplegia, hepatocerebral syndrome with m
45 causes the degenerative disease progressive external ophthalmoplegia in humans, and we show that thi
47 including patients with chronic progressive external ophthalmoplegia, Kearns Sayre syndrome, or Pear
48 gous to human autosomal dominant progressive external ophthalmoplegia mutations shows differential ef
50 geal muscular dystrophy, chronic progressive external ophthalmoplegia, myotonic dystrophy, neurofibro
51 families with autosomal dominant progressive external ophthalmoplegia (PEO) harbour mutations in gene
54 POLG leads to autosomal dominant progressive external ophthalmoplegia (PEO) with other severe phenoty
55 mitochondrial diseases including progressive external ophthalmoplegia (PEO), Alpers syndrome and othe
56 autosomal recessive and dominant progressive external ophthalmoplegia (PEO), Alpers syndrome, sensory
57 ndrial depletion syndrome (MDS), progressive external ophthalmoplegia (PEO), ataxia-neuropathy, or mi
58 of the hematopoietic system; and progressive external ophthalmoplegia (PEO), primarily affecting the
60 rder characterized by ptosis and progressive external ophthalmoplegia, peripheral neuropathy, severe
61 pol gamma results in early onset progressive external ophthalmoplegia, premature ovarian failure, and
62 ed in mid-adult life with either progressive external ophthalmoplegia/ptosis and spastic ataxia, or a
63 al disease, the genetic basis of progressive external ophthalmoplegia remains unknown in a large prop
64 bunit of pol gamma , that causes progressive external ophthalmoplegia with multiple mtDNA deletions a
65 aracterized by bilateral ptosis, restrictive external ophthalmoplegia with the eyes partially or comp
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