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1 rnal ophthalmoplegia; and autosomal dominant progressive external ophthalmoplegia.
2 enetically-defined mitochondrial disease and progressive external ophthalmoplegia.
3 e underlying genetic defect in patients with progressive external ophthalmoplegia.
4 ring from aggressive Alpers syndrome to mild progressive external ophthalmoplegia.
5 ing for 30 years, followed by development of progressive external ophthalmoplegia.
6 ondrial diseases such as Alpers syndrome and progressive external ophthalmoplegia.
7 r (AAC) are associated with certain types of progressive external ophthalmoplegia.
8 the genes responsible for autosomal dominant progressive external ophthalmoplegia.
9 e early-onset parkinsonism in the absence of progressive external ophthalmoplegia.
10 s and results in droopy eyelids (ptosis) and progressive external ophthalmoplegia.
11 ldren and adults presented with myopathy and progressive external ophthalmoplegia.
12 s and results in droopy eyelids (ptosis) and progressive external ophthalmoplegia.
13 er's hereditary optic neuropathy and chronic progressive external ophthalmoplegia.
14 to childhood (cardio)myopathy and late-onset progressive external ophthalmoplegia.
15 s in this same gene cause autosomal dominant progressive external ophthalmoplegia (adPEO) with multip
16 in the Ant1 isoform cause autosomal dominant progressive external ophthalmoplegia (adPEO), cardiomyop
17 s in the human Ant1 cause autosomal dominant Progressive External Ophthalmoplegia (adPEO), mitochondr
19 elicase disease variants have been linked to progressive external ophthalmoplegia and ataxia neuropat
20 th mitochondrial disorders including Alpers, progressive external ophthalmoplegia and ataxia-neuropat
21 sis and avoid muscle biopsy in patients with progressive external ophthalmoplegia and peripheral neur
22 as congenital nystagmus, autosomal dominant progressive external ophthalmoplegia, and oculopharyngea
23 xia neuropathy spectrum; autosomal recessive progressive external ophthalmoplegia; and autosomal domi
24 that mutations in SPG7 are a novel cause of progressive external ophthalmoplegia associated with mul
25 tations cause adult-onset autosomal-dominant progressive external ophthalmoplegia associated with mul
26 ge at disease onset, gender, family history, progressive external ophthalmoplegia at clinical present
27 or dysregulation of ANTs is associated with progressive external ophthalmoplegia, cardiomyopathy, no
28 talian families affected by dominant chronic progressive external ophthalmoplegia (CPEO) complicated
29 ns within ANT1 produce a syndrome of chronic progressive external ophthalmoplegia (CPEO) in humans.
31 uscle-restricted mtDNA deletions and chronic progressive external ophthalmoplegia (CPEO) plus syndrom
32 drome is a subgroup of mitochondrial chronic progressive external ophthalmoplegia (CPEO)-plus disorde
33 epilepsy with ragged red fibers, and chronic progressive external ophthalmoplegia deletion syndromes,
35 ear clinical follow-up of autosomal dominant progressive external ophthalmoplegia due to the p.R357P
37 pinocerebellar ataxia-epilepsy syndrome, and progressive external ophthalmoplegia, each with vastly d
38 is were used to study 68 adult patients with progressive external ophthalmoplegia either with or with
39 ataxia, myopathy, peripheral neuropathy and progressive external ophthalmoplegia from the third deca
40 disorder characterized clinically by ptosis, progressive external ophthalmoplegia, gastrointestinal d
41 ypically before the age of 30 years; ptosis; progressive external ophthalmoplegia; gastrointestinal d
42 ally found in cis in patients primarily with progressive external ophthalmoplegia generate T251I and
43 s associated with autosomal dominant chronic progressive external ophthalmoplegia have been described
44 h mitochondrial diseases such as adult-onset progressive external ophthalmoplegia, hepatocerebral syn
45 in pol gamma causes the degenerative disease progressive external ophthalmoplegia in humans, and we s
47 the proband, including patients with chronic progressive external ophthalmoplegia, Kearns Sayre syndr
48 utants analogous to human autosomal dominant progressive external ophthalmoplegia mutations shows dif
50 oculopharyngeal muscular dystrophy, chronic progressive external ophthalmoplegia, myotonic dystrophy
51 majority of families with autosomal dominant progressive external ophthalmoplegia (PEO) harbour mutat
54 titution in POLG leads to autosomal dominant progressive external ophthalmoplegia (PEO) with other se
55 ciated with autosomal recessive and dominant progressive external ophthalmoplegia (PEO), Alpers syndr
56 variety of mitochondrial diseases including progressive external ophthalmoplegia (PEO), Alpers syndr
57 ause mitochondrial depletion syndrome (MDS), progressive external ophthalmoplegia (PEO), ataxia-neuro
59 a disorder of the hematopoietic system; and progressive external ophthalmoplegia (PEO), primarily af
61 cessive disorder characterized by ptosis and progressive external ophthalmoplegia, peripheral neuropa
63 ive site of pol gamma results in early onset progressive external ophthalmoplegia, premature ovarian
64 ally developed in mid-adult life with either progressive external ophthalmoplegia/ptosis and spastic
65 mitochondrial disease, the genetic basis of progressive external ophthalmoplegia remains unknown in
66 accessory subunit of pol gamma , that causes progressive external ophthalmoplegia with multiple mtDNA