|
1
|
Finsterer J: Inherited mitochondrial
disorders. Adv Exp Med Biol. 942:187–213. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
McFarland R, Taylor RW and Turnbull DM: A
neurological perspective on mitochondrial disease. Lancet Neurol.
9:829–840. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Finsterer J and Zarrouk-Mahjoub S:
Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at
Onset. Sultan Qaboos Univ Med J. 16:e92–e95. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Emma F, Montini G, Parikh SM and Salviati
L: Mitochondrial dysfunction in inherited renal disease and acute
kidney injury. Nat Rev Nephrol. 12:267–280. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Niaudet P: Renal involvement in
mitochondrial cytopathies. Nephrol Ther. 9:116–124. 2013.(In
French). View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Emma F, Bertini E, Salviati L and Montini
G: Renal involvement in mitochondrial cytopathies. Pediatr Nephrol.
27:539–550. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Seidowsky A, Hoffmann M, Glowacki F,
Dhaenens CM, Devaux JP, de Sainte Foy CL, Provot F, Gheerbrant JD,
Hummel A, Hazzan M, et al: Renal involvement in MELAS syndrome - a
series of 5 cases and review of the literature. Clin Nephrol.
80:456–463. 2013. View
Article : Google Scholar : PubMed/NCBI
|
|
8
|
Yokoyama J, Yamaguchi H, Shigeto H,
Uchiumi T, Murai H and Kira J: A case of rhabdomyolysis after
status epilepticus without stroke-like episodes in mitochondrial
myopathy, encephalopathy, lactic acidosis, and stroke-like
episodes. Rinsho Shinkeigaku. 56:204–207. 2016.(In Japanese).
View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Finsterer J and Frank M: Prevalence of
neoplasms in definite and probable mitochondrial disorders.
Mitochondrion. 29:31–34. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Motoda A, Kurashige T, Sugiura T, Nakamura
T, Yamawaki T, Arihiro K and Matsumoto M: A case of MELAS with
G13513A mutation presenting with chronic kidney disease long before
stroke-like episodes. Rinsho Shinkeigaku. 53:446–451. 2013.(In
Japanese). View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Ponzetto C, Bresolin N, Bordoni A, Moggio
M, Meola G, Bet L, Prelle A and Scarlato G: Kearns-Sayre syndrome:
Different amounts of deleted mitochondrial DNA are present in
several autoptic tissues. J Neurol Sci. 96:207–210. 1990.
View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Bresolin N, Moggio M, Bet L, Gallanti A,
Prelle A, Nobile-Orazio E, Adobbati L, Ferrante C, Pellegrini G and
Scarlato G: Progressive cytochrome c oxidase deficiency in a case
of Kearns-Sayre syndrome: Morphological, immunological, and
biochemical studies in muscle biopsies and autopsy tissues. Ann
Neurol. 21:564–572. 1987. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Emma F, Pizzini C, Tessa A, Di
Giandomenico S, Onetti-Muda A, Santorelli FM, Bertini E and Rizzoni
G: ‘Bartter-like’ phenotype in Kearns-Sayre syndrome. Pediatr
Nephrol. 21:355–360. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Berio A and Piazzi A: Kearns-Sayre
syndrome associated with de Toni-Debré-Fanconi syndrome due to
cytochrome-c-oxidase (COX) deficiency. Panminerva Med. 43:211–214.
2001.PubMed/NCBI
|
|
15
|
Mochizuki H, Joh K, Kawame H, Imadachi A,
Nozaki H, Ohashi T, Usui N, Eto Y, Kanetsuna Y and Aizawa S:
Mitochondrial encephalomyopathies preceded by de-Toni-Debré-Fanconi
syndrome or focal segmental glomerulosclerosis. Clin Nephrol.
46:347–352. 1996.PubMed/NCBI
|
|
16
|
Mima A, Shiota F, Matsubara T, Iehara N,
Akagi T, Abe H, Nagai K, Matsuura M, Murakami T, Kishi S, et al: An
autopsy case of mitochondrial myopathy, encephalopathy, lactic
acidosis, and stroke-like episodes (MELAS) with intestinal bleeding
in chronic renal failure. Ren Fail. 33:622–625. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Lederer SR, Klopstock T and Schiffl H:
MELAS: A mitochondrial disorder in an adult patient with a renal
transplant. Wien Klin Wochenschr. 122:363–365. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Lau KK, Yang SP, Haddad MN, Butani L and
Makker SP: Mitochondrial encephalopathy with lactic acidosis and
stroke-like episodes syndrome with hypothyroidism and focal
segmental glomerulosclerosis in a paediatric patient. Int Urol
Nephrol. 39:941–946. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Kubota H, Tanabe Y, Takanashi J and Kohno
Y: Episodic hyponatremia in mitochondrial encephalomyopathy, lactic
acidosis, and strokelike episodes (MELAS). J Child Neurol.
20:116–120. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Cheong HI, Chae JH, Kim JS, Park HW, Ha
IS, Hwang YS, Lee HS and Choi Y: Hereditary glomerulopathy
associated with a mitochondrial tRNA(Leu) gene mutation. Pediatr
Nephrol. 13:477–480. 1999. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Iwasaki N, Babazono T, Tsuchiya K,
Tomonaga O, Suzuki A, Togashi M, Ujihara N, Sakka Y, Yokokawa H,
Ogata M, et al: Prevalence of A-to-G mutation at nucleotide 3243 of
the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with
diabetes mellitus and end stage renal disease. J Hum Genet.
46:330–334. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Yanagihara C, Oyama A, Tanaka M, Nakaji K
and Nishimura Y: An autopsy case of mitochondrial encephalomyopathy
with lactic acidosis and stroke-like episodes syndrome with chronic
renal failure. Intern Med. 40:662–665. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Kurogouchi F, Oguchi T, Mawatari E,
Yamaura S, Hora K, Takei M, Sekijima Y, Ikeda S and Kiyosawa K: A
case of mitochondrial cytopathy with a typical point mutation for
MELAS, presenting with severe focal-segmental glomerulosclerosis as
main clinical manifestation. Am J Nephrol. 18:551–556. 1998.
View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Piccoli GB, Bonino LD, Campisi P, Vigotti
FN, Ferraresi M, Fassio F, Brocheriou I, Porpiglia F and Restagno
G: Chronic kidney disease, severe arterial and arteriolar sclerosis
and kidney neoplasia: On the spectrum of kidney involvement in
MELAS syndrome. BMC Nephrol. 13:92012. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Sangkhathat S, Kusafuka T, Yoneda A,
Kuroda S, Tanaka Y, Sakai N and Fukuzawa M: Renal cell carcinoma in
a pediatric patient with an inherited mitochondrial mutation.
Pediatr Surg Int. 21:745–748. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Mori K, Narahara K, Ninomiya S, Goto Y and
Nonaka I: Renal and skin involvement in a patient with complete
Kearns-Sayre syndrome. Am J Med Genet. 38:583–587. 1991. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Ho J, Pacaud D, Rakic M and Khan A:
Diabetes in pediatric patients with Kearns-Sayre syndrome: Clinical
presentation of 2 cases and a review of pathophysiology. Can J
Diabetes. 38:225–228. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Liu HM, Tsai LP, Chien YH, Wu JF, Weng WC,
Peng SF, Wu ET, Huang PH, Lee WT, Tsai IJ, et al: A novel 3670-base
pair mitochondrial DNA deletion resulting in multi-systemic
manifestations in a child. Pediatr Neonatol. 53:264–268. 2012.
View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Tzoufi M, Makis A, Chaliasos N, Nakou I,
Siomou E, Tsatsoulis A, Zikou A, Argyropoulou M, Bonnefont JP and
Siamopoulou A: A rare case report of simultaneous presentation of
myopathy, Addison's disease, primary hypoparathyroidism, and
Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.
Eur J Pediatr. 172:557–561. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
Mihai CM, Catrinoiu D, Toringhibel M,
Stoicescu RM and Hancu A: De Toni-Debré-Fanconi syndrome in a
patient with Kearns-Sayre syndrome: A case report. J Med Case
Reports. 3:1012009. View Article : Google Scholar
|
|
31
|
Pitchon EM, Cachat F, Jacquemont S, Hinard
C, Borruat FX, Schorderet DF, Morris MA and Munier FL: Patient with
Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a
deletion and duplication of mitochondrial DNA (mtDNA). Klin
Monatsbl Augenheilkd. 224:340–343. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Eviatar L, Shanske S, Gauthier B, Abrams
C, Maytal J, Slavin M, Valderrama E and DiMauro S: Kearns-Sayre
syndrome presenting as renal tubular acidosis. Neurology.
40:1761–1763. 1990. View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Katsanos KH, Elisaf M, Bairaktari E and
Tsianos EV: Severe hypomagnesemia and hypoparathyroidism in
Kearns-Sayre syndrome. Am J Nephrol. 21:150–153. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
34
|
Goto Y, Itami N, Kajii N, Tochimaru H,
Endo M and Horai S: Renal tubular involvement mimicking Bartter
syndrome in a patient with Kearns-Sayre syndrome. J Pediatr.
116:904–910. 1990. View Article : Google Scholar : PubMed/NCBI
|
|
35
|
Choe Y, Park E, Hyun HS, Ko JM, Kang HG,
Kim JH, Park SH and Cheong HI: A 7-year-old girl presenting with a
Bartter-like phenotype: Answers. Pediatr Nephrol. (In press).
|
|
36
|
Stojanovic V, Mayr JA, Sperl W, Barišić N,
Doronjski A and Milak G: Infantile peripheral neuropathy, deafness,
and proximal tubulopathy associated with a novel mutation of the
RRM2B gene: Case study. Croat Med J. 54:579–584. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
37
|
De Greef E, Christodoulou J, Alexander IE,
Shun A, O'Loughlin EV, Thorburn DR, Jermyn V and Stormon MO:
Mitochondrial respiratory chain hepatopathies: Role of liver
transplantation. A case series of five patients. JIMD Rep. 4:5–11.
2012. View Article : Google Scholar : PubMed/NCBI
|
|
38
|
Prasad C, Melançon SB, Rupar CA, Prasad
AN, Nunez LD, Rosenblatt DS and Majewski J: Exome sequencing
reveals a homozygous mutation in TWINKLE as the cause of
multisystemic failure including renal tubulopathy in three
siblings. Mol Genet Metab. 108:190–194. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
39
|
Lee IC, Lee NC, Lu JJ and Su PH:
Mitochondrial depletion causes neonatal-onset leigh syndrome,
myopathy, and renal tubulopathy. J Child Neurol. 28:404–408. 2013.
View Article : Google Scholar : PubMed/NCBI
|
|
40
|
Kollberg G, Darin N, Benan K, Moslemi AR,
Lindal S, Tulinius M, Oldfors A and Holme E: A novel homozygous
RRM2B missense mutation in association with severe mtDNA depletion.
Neuromuscul Disord. 19:147–150. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
41
|
Acham-Roschitz B, Plecko B, Lindbichler F,
Bittner R, Mache CJ, Sperl W and Mayr JA: A novel mutation of the
RRM2B gene in an infant with early fatal encephalomyopathy, central
hypomyelination, and tubulopathy. Mol Genet Metab. 98:300–304.
2009. View Article : Google Scholar : PubMed/NCBI
|
|
42
|
Dimmock DP, Zhang Q, Dionisi-Vici C,
Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M,
Lucioli S, et al: Clinical and molecular features of mitochondrial
DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat.
29:330–331. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
43
|
El-Hattab AW and Scaglia F: Mitochondrial
DNA depletion syndromes: Review and updates of genetic basis,
manifestations, and therapeutic options. Neurotherapeutics.
10:186–198. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
44
|
Yuri T, Kondo Y, Kohno K, Lei YC,
Kanematsu S, Kuwata M, Iwasaka T and Tsubura A: An autopsy case of
chronic progressive external ophthalmoplegia with renal
insufficiency. Med Mol Morphol. 41:233–237. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
45
|
Majander A, Suomalainen A, Vettenranta K,
Sariola H, Perkkiö M, Holmberg C and Pihko H: Congenital
hypoplastic anemia, diabetes, and severe renal tubular dysfunction
associated with a mitochondrial DNA deletion. Pediatr Res.
30:327–330. 1991. View Article : Google Scholar : PubMed/NCBI
|
|
46
|
Singh V, Bhattacharjee S, Singh K and
Narula MK: Leber's amaurosis with nephronophthisis and congenital
hepatic fibrosis. Indian Pediatr. 41:1053–1056. 2004.PubMed/NCBI
|
|
47
|
Furuyama K, Harigae H, Kinoshita C,
Shimada T, Miyaoka K, Kanda C, Maruyama Y, Shibahara S and Sassa S:
Late-onset X-linked sideroblastic anemia following hemodialysis.
Blood. 101:4623–4624. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
48
|
Tay SK, Sacconi S, Akman HO, Morales JF,
Morales A, De Vivo DC, Shanske S, Bonilla E and DiMauro S: Unusual
clinical presentations in four cases of Leigh disease, cytochrome C
oxidase deficiency, and SURF1 gene mutations. J Child Neurol.
20:670–674. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
49
|
Belostotsky R, Ben-Shalom E, Rinat C,
Becker-Cohen R, Feinstein S, Zeligson S, Segel R, Elpeleg O, Nassar
S and Frishberg Y: Mutations in the mitochondrial seryl-tRNA
synthetase cause hyperuricemia, pulmonary hypertension, renal
failure in infancy and alkalosis, HUPRA syndrome. Am J Hum Genet.
88:193–200. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
50
|
Gürgey A, Ozalp I, Rötig A, Coşkun T,
Tekinalp G, Erdem G, Akeören Z, Caglar M and Bakkaloglu A: A case
of Pearson syndrome associated with multiple renal cysts. Pediatr
Nephrol. 10:637–638. 1996. View Article : Google Scholar : PubMed/NCBI
|
|
51
|
Scalais E, Chafai R, Van Coster R, Bindl
L, Nuttin C, Panagiotaraki C, Seneca S, Lissens W, Ribes A, Geers
C, et al: Early myoclonic epilepsy, hypertrophic cardiomyopathy and
subsequently a nephrotic syndrome in a patient with CoQ10
deficiency caused by mutations in para-hydroxybenzoate-polyprenyl
transferase (COQ2). Eur J Paediatr Neurol. 17:625–630. 2013.
View Article : Google Scholar : PubMed/NCBI
|
|
52
|
Rivera H, Martín-Hernández E, Delmiro A,
García-Silva MT, Quijada-Fraile P, Muley R, Arenas J, Martín MA and
Martínez-Azorín F: A new mutation in the gene encoding
mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.
BMC Nephrol. 14:1952013. View Article : Google Scholar : PubMed/NCBI
|
|
53
|
Nakajima J, Eminoglu TF, Vatansever G,
Nakashima M, Tsurusaki Y, Saitsu H, Kawashima H, Matsumoto N and
Miyake N: A novel homozygous YARS2 mutation causes severe myopathy,
lactic acidosis, and sideroblastic anemia 2. J Hum Genet.
59:229–232. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
54
|
Leslie N, Wang X, Peng Y, Valencia CA,
Khuchua Z, Hata J, Witte D, Huang T and Bove KE: Neonatal
multiorgan failure due to ACAD9 mutation and complex I deficiency
with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal
muscle, and renal tubules. Hum Pathol. 49:27–32. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
55
|
Brecht M, Richardson M, Taranath A, Grist
S, Thorburn D and Bratkovic D: Leigh Syndrome Caused by the MT-ND5
m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction
Defect, Cardiomyopathy, Hypertension and Hyponatraemia. JIMD Rep.
19:95–100. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
56
|
Yamakawa T, Yoshida F, Kumagai T, Watanabe
H, Takano A, Mizuno M, Ikeguchi H, Morita Y, Sobue G and Matsuo S:
Glomerulocystic kidney associated with subacute
necrotizing-encephalomyelopathy. Am J Kidney Dis. 37:E142001.
View Article : Google Scholar : PubMed/NCBI
|
|
57
|
Kasapkara ÇS, Tümer L, Ezgü FS,
Küçükçongar A and Hasanoğlu A: BCS1L gene mutation causing GRACILE
syndrome: Case report. Ren Fail. 36:953–954. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
58
|
Levéen P, Kotarsky H, Mörgelin M,
Karikoski R, Elmér E and Fellman V: The GRACILE mutation introduced
into Bcs1l causes postnatal complex III deficiency: A viable mouse
model for mitochondrial hepatopathy. Hepatology. 53:437–447. 2011.
View Article : Google Scholar : PubMed/NCBI
|
|
59
|
Viscomi C, Spinazzola A, Maggioni M,
Fernandez-Vizarra E, Massa V, Pagano C, Vettor R, Mora M and
Zeviani M: Early-onset liver mtDNA depletion and late-onset
proteinuric nephropathy in Mpv17 knockout mice. Hum Mol Genet.
18:12–26. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
60
|
Dabrowska A, Tarnowska C, Jałowinski R,
Stankiewicz J and Grzegorz M: Multiple symmetric lipomatosis in the
otolaryngology as diagnostic and therapeutic problem. Otolaryngol
Pol. 59:717–722. 2005.(In Polish). PubMed/NCBI
|
|
61
|
Yoshida I, Sweetman L, Kulovich S, Nyhan
WL and Robinson BH: Effect of lipoic acid in a patient with
defective activity of pyruvate dehydrogenase, 2-oxoglutarate
dehydrogenase, and branched-chain keto acid dehydrogenase. Pediatr
Res. 27:75–79. 1990. View Article : Google Scholar : PubMed/NCBI
|
|
62
|
Uyama E, Kutsukake Y, Hara A, Uemura K,
Uchino M, Mita S, Ando M and Taketomi T: Abnormal excretion of
urinary phospholipids and sulfatide in patients with mitochondrial
encephalomyopathies. Biochem Biophys Res Commun. 194:266–273. 1993.
View Article : Google Scholar : PubMed/NCBI
|
|
63
|
Doleris LM, Hill GS, Chedin P, Nochy D,
Bellanne-Chantelot C, Hanslik T, Bedrossian J, Caillat-Zucman S,
Cahen-Varsaux J and Bariety J: Focal segmental glomerulosclerosis
associated with mitochondrial cytopathy. Kidney Int. 58:1851–1858.
2000. View Article : Google Scholar : PubMed/NCBI
|
|
64
|
Menegon LF, Amaral TN and Gontijo JA:
Renal sodium handling study in an atypical case of Bartter's
syndrome associated with mitochondriopathy and sensorineural
blindness. Ren Fail. 26:195–197. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
65
|
Valnot I, von Kleist-Retzow JC, Barrientos
A, Gorbatyuk M, Taanman JW, Mehaye B, Rustin P, Tzagoloff A,
Munnich A and Rötig A: A mutation in the human heme
A:farnesyltransferase gene (COX10) causes cytochrome c oxidase
deficiency. Hum Mol Genet. 9:1245–1249. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
66
|
Imasawa T, Tanaka M, Yamaguchi Y, Nakazato
T, Kitamura H and Nishimura M: 7501 T > A mitochondrial DNA
variant in a patient with glomerulosclerosis. Ren Fail.
36:1461–1465. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
67
|
Kobayashi A, Goto Y, Nagata M and
Yamaguchi Y: Granular swollen epithelial cells: A histologic and
diagnostic marker for mitochondrial nephropathy. Am J Surg Pathol.
34:262–270. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
68
|
de Lonlay P, Valnot I, Barrientos A,
Gorbatyuk M, Tzagoloff A, Taanman JW, Benayoun E, Chrétien D,
Kadhom N, Lombès A, et al: A mutant mitochondrial respiratory chain
assembly protein causes complex III deficiency in patients with
tubulopathy, encephalopathy and liver failure. Nat Genet. 29:57–60.
2001. View Article : Google Scholar : PubMed/NCBI
|
|
69
|
Magner M, Dvorakova V, Tesarova M,
Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel
R, Horovitz Y, et al: TMEM70 deficiency: Long-term outcome of 48
patients. J Inherit Metab Dis. 38:417–426. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
70
|
Riley LG, Rudinger-Thirion J, Schmitz-Abe
K, Thorburn DR, Davis RL, Teo J, Arbuckle S, Cooper ST, Campagna
DR, Frugier M, et al: LARS2 Variants Associated with Hydrops,
Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
JIMD Rep. 28:49–57. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
71
|
Saada A, Shaag A, Arnon S, Dolfin T,
Miller C, Fuchs-Telem D, Lombes A and Elpeleg O: Antenatal
mitochondrial disease caused by mitochondrial ribosomal protein
(MRPS22) mutation. J Med Genet. 44:784–786. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
72
|
Tucker EJ, Wanschers BF, Szklarczyk R,
Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM,
Rodenburg RJ, Reljić B, Compton AG, et al: Mutations in the
UQCC1-interacting protein, UQCC2, cause human complex III
deficiency associated with perturbed cytochrome b protein
expression. PLoS Genet. 9:e10040342013. View Article : Google Scholar : PubMed/NCBI
|
|
73
|
Gupta A, Colmenero I, Ragge NK, Blakely
EL, He L, McFarland R, Taylor RW, Vogt J and Milford DV: Compound
heterozygous RMND1 gene variants associated with chronic kidney
disease, dilated cardiomyopathy and neurological involvement: A
case report. BMC Res Notes. 9:3252016. View Article : Google Scholar : PubMed/NCBI
|
|
74
|
D'Aco KE, Manno M, Clarke C, Ganesh J,
Meyers KE and Sondheimer N: Mitochondrial tRNA(Phe) mutation as a
cause of end-stage renal disease in childhood. Pediatr Nephrol.
28:515–519. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
75
|
Scaglia F, Vogel H, Hawkins EP, Vladutiu
GD, Liu LL and Wong LJ: Novel homoplasmic mutation in the
mitochondrial tRNATyr gene associated with atypical mitochondrial
cytopathy presenting with focal segmental glomerulosclerosis. Am J
Med Genet A. 123A:172–178. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
76
|
Matsumura M, Nakashima A, Araki T, Tofuku
Y, Koizumi J, Yagi K, Koni I and Mabuchi H: L-Carnitine
supplementation in a hemodialysis patient with a mutation in the
mitochondrial tRNA(Leu(UUR)) gene. Nephron. 85:275–276. 2000.
View Article : Google Scholar : PubMed/NCBI
|
|
77
|
Ashraf S, Gee HY, Woerner S, Xie LX,
Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado
C, et al: ADCK4 mutations promote steroid-resistant nephrotic
syndrome through CoQ10 biosynthesis disruption. J Clin Invest.
123:5179–5189. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
78
|
McDonald DG, McMenamin JB, Farrell MA,
Droogan O and Green AJ: Familial childhood onset neuropathy and
cirrhosis with the 4977bp mitochondrial DNA deletion. Am J Med
Genet. 111:191–194. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
79
|
Broomfield A, Sweeney MG, Woodward CE,
Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton
PT, Hanna MG, et al: Paediatric single mitochondrial DNA deletion
disorders: An overlapping spectrum of disease. J Inherit Metab Dis.
38:445–457. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
80
|
Capková M, Tesarová M, Wenchich L, Cerná
L, Hansíková H, Hůlková H, Hrubá E, Elleder M and Zeman J:
Disorders of mitochondrial energy metabolism in patients with the
Kearns-Sayre syndrome. Cas Lek Cesk. 141:51–54. 2002.(In Czech).
PubMed/NCBI
|
|
81
|
Löwik MM, Hol FA, Steenbergen EJ, Wetzels
JF and van den Heuvel LP: Mitochondrial tRNALeu(UUR) mutation in a
patient with steroid-resistant nephrotic syndrome and focal
segmental glomerulosclerosis. Nephrol Dial Transplant. 20:336–341.
2005. View Article : Google Scholar : PubMed/NCBI
|
|
82
|
Tzen CY, Tsai JD, Wu TY, Chen BF, Chen ML,
Lin SP and Chen SC: Tubulointerstitial nephritis associated with a
novel mitochondrial point mutation. Kidney Int. 59:846–854. 2001.
View Article : Google Scholar : PubMed/NCBI
|
|
83
|
Tabebi M, Mkaouar-Rebai E, Mnif M, Kallabi
F, Ben Mahmoud A, Ben Saad W, Charfi N, Keskes-Ammar L, Kamoun H,
Abid M, et al: A novel mutation MT-COIII m.9267G>C and MT-COI
m.5913G>A mutation in mitochondrial genes in a Tunisian family
with maternally inherited diabetes and deafness (MIDD) associated
with severe nephropathy. Biochem Biophys Res Commun. 459:353–360.
2015. View Article : Google Scholar : PubMed/NCBI
|
|
84
|
Bourdon A, Minai L, Serre V, Jais JP,
Sarzi E, Aubert S, Chrétien D, de Lonlay P, Paquis-Flucklinger V,
Arakawa H, et al: Mutation of RRM2B, encoding p53-controlled
ribonucleotide reductase (p53R2), causes severe mitochondrial DNA
depletion. Nat Genet. 39:776–780. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
85
|
Kanabus M, Shahni R, Saldanha JW, Murphy
E, Plagnol V, Hoff WV, Heales S and Rahman S: Bi-allelic CLPB
mutations cause cataract, renal cysts, nephrocalcinosis and
3-methylglutaconic aciduria, a novel disorder of mitochondrial
protein disaggregation. J Inherit Metab Dis. 38:211–219. 2015.
View Article : Google Scholar : PubMed/NCBI
|
|
86
|
Distelmaier F, Haack TB, Catarino CB,
Gallenmüller C, Rodenburg RJ, Strom TM, Baertling F, Meitinger T,
Mayatepek E, Prokisch H, et al: MRPL44 mutations cause a slowly
progressive multisystem disease with childhood-onset hypertrophic
cardiomyopathy. Neurogenetics. 16:319–323. 2015. View Article : Google Scholar : PubMed/NCBI
|
