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Quoted phrase not found in phrase index: "Ataxia, deafness, and cardiomyopathy"
Page 1
Neurological complications of cardiomyopathies.
Fonseca AC, Almeida AG, Santos MO, Ferro JM. Fonseca AC, et al. Handb Clin Neurol. 2021;177:91-109. doi: 10.1016/B978-0-12-819814-8.00001-9. Handb Clin Neurol. 2021. PMID: 33632460
Conversely, the cardiomyopathies may result in a wide array of neurological disorders. ...Likewise, neurological complications may be the result of diagnostic procedures or medications for the cardiomyopathies and vice versa. Neurological manifestations of the ca …
Conversely, the cardiomyopathies may result in a wide array of neurological disorders. ...Likewise, neurological complications may be …
Mitochondriopathies.
Finsterer J. Finsterer J. Eur J Neurol. 2004 Mar;11(3):163-86. doi: 10.1046/j.1351-5101.2003.00728.x. Eur J Neurol. 2004. PMID: 15009163 Review.
Mitochondriopathies (MCPs) are either due to sporadic or inherited mutations in nuclear or mitochondrial DNA located genes (primary MCPs), or due to exogenous factors (secondary MCPs). MCPs usually show a chronic, slowly progressive course and present with multiorgan invol …
Mitochondriopathies (MCPs) are either due to sporadic or inherited mutations in nuclear or mitochondrial DNA located genes (primary MCPs), o …
Mitochondrial DNA disorders.
Naviaux RK. Naviaux RK. Eur J Pediatr. 2000 Dec;159 Suppl 3:S219-26. doi: 10.1007/pl00014407. Eur J Pediatr. 2000. PMID: 11216904 Review.
The clinical phenotypes of mitochondrial tRNA disease span the spectrum of all known oxidative phosphorylation disorders and include MELAS, MERRF, Leigh syndrome, PEO, deafness, diabetes, sideroblastic anemia, myoclonus, skeletal myopathy, cardiomyopathy, and renal tubular …
The clinical phenotypes of mitochondrial tRNA disease span the spectrum of all known oxidative phosphorylation disorders and include MELAS, …
Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.
Iványi B, Rácz GZ, Gál P, Brinyiczki K, Bódi I, Kalmár T, Maróti Z, Bereczki C. Iványi B, et al. Pediatr Nephrol. 2018 Mar;33(3):439-446. doi: 10.1007/s00467-017-3814-1. Epub 2017 Oct 14. Pediatr Nephrol. 2018. PMID: 29032433
BACKGROUND: A 7-month-old male infant was admitted because he was suffering from nephrotic syndrome, along with encephalomyopathy, hypertrophic cardiomyopathy, clinically suspected deafness and retinitis pigmentosa, and an elevated serum lactate level. ...
BACKGROUND: A 7-month-old male infant was admitted because he was suffering from nephrotic syndrome, along with encephalomyopathy, hypertrop …
High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects.
Frederiksen AL, Jeppesen TD, Vissing J, Schwartz M, Kyvik KO, Schmitz O, Poulsen PL, Andersen PH. Frederiksen AL, et al. J Clin Endocrinol Metab. 2009 Aug;94(8):2872-9. doi: 10.1210/jc.2009-0235. Epub 2009 May 26. J Clin Endocrinol Metab. 2009. PMID: 19470628
INTRODUCTION: The point mutation of 3243A>G mtDNA is the most frequent cause of mitochondrial diabetes, often presenting as the syndrome maternally inherited diabetes and deafness (MIDD). The mutation may also cause myopathy, ataxia, strokes, ophthalmoplegia, epi …
INTRODUCTION: The point mutation of 3243A>G mtDNA is the most frequent cause of mitochondrial diabetes, often presenting as the syndrome …