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Quoted phrase not found in phrase index: "Inborn mitochondrial myopathy"
Page 1
Mitochondrial disorders.
Schapira AH. Schapira AH. Curr Opin Neurol. 2000 Oct;13(5):527-32. doi: 10.1097/00019052-200010000-00004. Curr Opin Neurol. 2000. PMID: 11073358 Review.
The rate of advance of our understanding of mitochondrial pathology continues to accelerate. Trends in genotype-phenotype correlations in mitochondrial DNA mutations continue to be developed; the latest of these is the association of exercise intolerance with cytoch …
The rate of advance of our understanding of mitochondrial pathology continues to accelerate. Trends in genotype-phenotype correlation …
Emerging treatments in myopathies.
Antozzi C, Confalonieri P, Mantegazza R, Di Donato S. Antozzi C, et al. Eur Neurol. 1997;38(3):222-9. doi: 10.1159/000113377. Eur Neurol. 1997. PMID: 9363835 Review.
The identification of genetic mutations has improved considerably the diagnostic approach to muscular dystrophies, mitochondrial myopathies and ion channel disorders. Important results have been achieved in the field of inflammatory myopathies. ...
The identification of genetic mutations has improved considerably the diagnostic approach to muscular dystrophies, mitochondrial m …
New indications and controversies in arginine therapy.
Coman D, Yaplito-Lee J, Boneh A. Coman D, et al. Clin Nutr. 2008 Aug;27(4):489-96. doi: 10.1016/j.clnu.2008.05.007. Epub 2008 Jul 21. Clin Nutr. 2008. PMID: 18640748 Review.
In recent years, arginine supplementation or restriction has been proposed and trialled in several disorders, including vascular diseases and asthma, mitochondrial encephalopathy lactic acidosis and stroke-like episodes (MELAS), glutaric aciduria type I and disorders of cr …
In recent years, arginine supplementation or restriction has been proposed and trialled in several disorders, including vascular diseases an …
Metabolic and drug-induced muscle disorders.
Scarlato G, Comi GP. Scarlato G, et al. Curr Opin Neurol. 2002 Oct;15(5):533-8. doi: 10.1097/00019052-200210000-00003. Curr Opin Neurol. 2002. PMID: 12351996 Review.
Almost every step of these complex biochemical pathways can be affected by inborn errors, whose expression depends on peculiar tissue-specific or systemic gene expression. ...RECENT FINDINGS: New inherited defects are still being discovered, such as the beta-enolase defici …
Almost every step of these complex biochemical pathways can be affected by inborn errors, whose expression depends on peculiar tissue …
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.
Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R. Murali CN, et al. Mol Genet Metab. 2021 Feb;132(2):146-153. doi: 10.1016/j.ymgme.2021.01.005. Epub 2021 Jan 14. Mol Genet Metab. 2021. PMID: 33485800 Free PMC article.
TRMU is a nuclear gene crucial for mitochondrial DNA translation by encoding tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase, which thiolates mitochondrial tRNA. Biallelic pathogenic variants in TRMU are associated with transient infantile liver failure. …
TRMU is a nuclear gene crucial for mitochondrial DNA translation by encoding tRNA 5-methylaminomethyl-2-thiouridylate methyltransfera …
Rapid Targeted Genomics in Critically Ill Newborns.
van Diemen CC, Kerstjens-Frederikse WS, Bergman KA, de Koning TJ, Sikkema-Raddatz B, van der Velde JK, Abbott KM, Herkert JC, Löhner K, Rump P, Meems-Veldhuis MT, Neerincx PBT, Jongbloed JDH, van Ravenswaaij-Arts CM, Swertz MA, Sinke RJ, van Langen IM, Wijmenga C. van Diemen CC, et al. Pediatrics. 2017 Oct;140(4):e20162854. doi: 10.1542/peds.2016-2854. Pediatrics. 2017. PMID: 28939701 Clinical Trial.
We identified compound heterozygous mutations in the EPG5 gene (Vici syndrome), the RMND1 gene (combined oxidative phosphorylation deficiency-11), and the EIF2B5 gene (vanishing white matter), and homozygous mutations in the KLHL41 gene (nemaline myopathy), the GFER gene ( …
We identified compound heterozygous mutations in the EPG5 gene (Vici syndrome), the RMND1 gene (combined oxidative phosphorylation deficienc …
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy.
Lam CW, Lau CH, Williams JC, Chan YW, Wong LJ. Lam CW, et al. Eur J Pediatr. 1997 Jul;156(7):562-4. doi: 10.1007/s004310050663. Eur J Pediatr. 1997. PMID: 9243242
We report in this study a patient who developed repeated convulsions as a result of valproate therapy. MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) was subsequently diagnosed and a nucleotide 3243 A-->G mutation was det …
We report in this study a patient who developed repeated convulsions as a result of valproate therapy. MELAS (mitochondrial myopat …
Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program.
Vockley J, Enns GM, Ramirez AN, Bedrosian CL, Reineking B, Lu X, Ray K, Rahman S, Marsden D. Vockley J, et al. Mol Genet Metab. 2022 Jun;136(2):152-162. doi: 10.1016/j.ymgme.2022.04.001. Epub 2022 Apr 11. Mol Genet Metab. 2022. PMID: 35459555 Free article.
Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of inborn errors of metabolism wherein patients are unable to process long-chain fatty acids into useable energy in the mitochondria. ...Triheptanoin is a synthetic medium-odd chain triglyceride, produced usin …
Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of inborn errors of metabolism wherein patients are unable to process …
The investigation and management of metabolic myopathies.
Olpin SE, Murphy E, Kirk RJ, Taylor RW, Quinlivan R. Olpin SE, et al. J Clin Pathol. 2015 Jun;68(6):410-7. doi: 10.1136/jclinpath-2014-202808. Epub 2015 Apr 15. J Clin Pathol. 2015. PMID: 25878327
Metabolic myopathies (MM) are rare inherited primary muscle disorders that are mainly due to abnormalities of muscle energy metabolism resulting in skeletal muscle dysfunction. ...However, the differential diagnosis includes a wide range of both acquired and inherited cond …
Metabolic myopathies (MM) are rare inherited primary muscle disorders that are mainly due to abnormalities of muscle energy metabolis …
Current issues regarding treatment of mitochondrial fatty acid oxidation disorders.
Spiekerkoetter U, Bastin J, Gillingham M, Morris A, Wijburg F, Wilcken B. Spiekerkoetter U, et al. J Inherit Metab Dis. 2010 Oct;33(5):555-61. doi: 10.1007/s10545-010-9188-1. Epub 2010 Sep 10. J Inherit Metab Dis. 2010. PMID: 20830526 Review.
There is no need to limit participation in sports. Progression of retinopathy in disorders of the mitochondrial trifunctional protein complex is closely associated with hydroxyacylcarnitine accumulation. ...With respect to the use of the odd-chain medium-chain triglyceride …
There is no need to limit participation in sports. Progression of retinopathy in disorders of the mitochondrial trifunctional protein …
33 results