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Metabolic Myopathies in the Era of Next-Generation Sequencing.
Urtizberea JA, Severa G, Malfatti E. Urtizberea JA, et al. Genes (Basel). 2023 Apr 22;14(5):954. doi: 10.3390/genes14050954. Genes (Basel). 2023. PMID: 37239314 Free PMC article. Review.
Although not devoid of limitations, the newborn screening programs that are currently mushrooming across the globe show that early intervention in metabolic myopathies is a key factor for better therapeutic efficacy and long-term prognosis. As a whole NGS has largely incre …
Although not devoid of limitations, the newborn screening programs that are currently mushrooming across the globe show that early intervent …
Can hyperuricemia predict glycogen storage disease (McArdle's disease) in rheumatology practice? (Myogenic hyperuricemia).
Üsküdar Cansu D, Erdoğan B, Korkmaz C. Üsküdar Cansu D, et al. Clin Rheumatol. 2019 Oct;38(10):2941-2948. doi: 10.1007/s10067-019-04572-8. Epub 2019 May 1. Clin Rheumatol. 2019. PMID: 31044384 Review.
Clinical manifestation of metabolic diseases leading to secondary hyperuricemia most predominantly occurs in the form of gouty arthritis. Hyperuricemia and gout may develop during the course of glycogen storage diseases (GSD), particularly in GSD type I, which involves the …
Clinical manifestation of metabolic diseases leading to secondary hyperuricemia most predominantly occurs in the form of gouty arthritis. Hy …
PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features.
Carvalho AAS, Christofolini DM, Perez MM, Alves BCA, Rodart I, Figueiredo FWS, Turke KC, Feder D, Junior MCF, Nucci AM, Fonseca FLA. Carvalho AAS, et al. PLoS One. 2020 Jul 31;15(7):e0236597. doi: 10.1371/journal.pone.0236597. eCollection 2020. PLoS One. 2020. PMID: 32735634 Free PMC article.
Association between mRNA expression and other aspects of the disease showed no statistically significant difference (p> 0.05). DISCUSSION: mRNA expression is not useful as a predictor factor for the prognosis and severity of the disease. Different mechanisms as p …
Association between mRNA expression and other aspects of the disease showed no statistically significant difference (p> 0.05). DISCUSSION …
Non-osteogenic muscle hypertrophy in children with McArdle disease.
Rodríguez-Gómez I, Santalla A, Díez-Bermejo J, Munguía-Izquierdo D, Alegre LM, Nogales-Gadea G, Arenas J, Martín MA, Lucía A, Ara I. Rodríguez-Gómez I, et al. J Inherit Metab Dis. 2018 Nov;41(6):1037-1042. doi: 10.1007/s10545-018-0170-7. Epub 2018 Mar 28. J Inherit Metab Dis. 2018. PMID: 29594644
This phenomenon warrants special attention since low osteogenesis at an early age predicts a high risk for osteoporosis later in life....
This phenomenon warrants special attention since low osteogenesis at an early age predicts a high risk for osteoporosis later in life …
Clinical utility gene card for McArdle disease.
Taylor RL, Davis M, Turner E, Brull A, Pinos T, Cabrera M, Nowak KJ. Taylor RL, et al. Eur J Hum Genet. 2018 May;26(5):758-764. doi: 10.1038/s41431-017-0070-6. Epub 2018 Jan 25. Eur J Hum Genet. 2018. PMID: 29371640 Free PMC article.
OMIM# of the gene(s) #608455.Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in the PYGM gene(s) in diagnostic, predictive and prenatal settings and for risk assessment in relatives....
OMIM# of the gene(s) #608455.Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for vari …
Reference values for the 12 minute walk test in McArdle patients.
Pattni J, Godfrey R, Chatfield S, Booth S, Quinlivan R. Pattni J, et al. Neuromuscul Disord. 2020 Oct;30(10):862-865. doi: 10.1016/j.nmd.2020.08.361. Epub 2020 Aug 25. Neuromuscul Disord. 2020. PMID: 32962872
The maximum distance achieved on a modified 12 min walk test (12MWT) is a well-established measure in McArdle disease glycogen storage disease type V (GSDV). Age, height, body mass and gender are known predictors of walking distance in other patient groups. Reference value …
The maximum distance achieved on a modified 12 min walk test (12MWT) is a well-established measure in McArdle disease glycogen storage disea …
Exercise efficiency impairment in metabolic myopathies.
Noury JB, Zagnoli F, Petit F, Marcorelles P, Rannou F. Noury JB, et al. Sci Rep. 2020 May 29;10(1):8765. doi: 10.1038/s41598-020-65770-y. Sci Rep. 2020. PMID: 32472082 Free PMC article.

The V'O(2)/Work-Rate slope for exercise was determined by linear regression analysis. Lower oxygen consumption (peak percent of predicted, mean SD; p < 0.04, one-way ANOVA) was seen in patients with glycogenoses (62.8 10.2%) and respiratory chain defects (70.8 23.3%) co

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The V'O(2)/Work-Rate slope for exercise was determined by linear regression analysis. Lower oxygen consumption (peak percent of predicted …
Long-Term Exercise Intervention in Patients with McArdle Disease: Clinical and Aerobic Fitness Benefits.
Santalla A, Valenzuela PL, Rodriguez-Lopez C, Rodríguez-Gómez I, Nogales-Gadea G, Pinós T, Arenas J, Martín MA, Santos-Lozano A, Morán M, Fiuza-Luces C, Ara I, Lucia A. Santalla A, et al. Med Sci Sports Exerc. 2022 Aug 1;54(8):1231-1241. doi: 10.1249/MSS.0000000000002915. Epub 2022 Mar 22. Med Sci Sports Exerc. 2022. PMID: 35320153
CONCLUSIONS: A 2-yr unsupervised intervention including aerobic and resistance exercise is safe and induces major benefits in the clinical course and aerobic fitness of patients with McArdle disease....
CONCLUSIONS: A 2-yr unsupervised intervention including aerobic and resistance exercise is safe and induces major benefits in the clinical …
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
Santalla A, Nogales-Gadea G, Encinar AB, Vieitez I, González-Quintana A, Serrano-Lorenzo P, Consuegra IG, Asensio S, Ballester-Lopez A, Pintos-Morell G, Coll-Cantí J, Pareja-Galeano H, Díez-Bermejo J, Pérez M, Andreu AL, Pinós T, Arenas J, Martín MA, Lucia A. Santalla A, et al. BMC Genomics. 2017 Nov 14;18(Suppl 8):819. doi: 10.1186/s12864-017-4188-2. BMC Genomics. 2017. PMID: 29143597 Free PMC article.

Physically active patients are more likely to report an improvement after a 4-year period in the clinical course of the disease than their inactive peers (odds ratio: 13.98; 95% confidence interval: 5.6, 34.9; p < 0.001). ...CONCLUSIONS: The reported prevalence of McArd

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Physically active patients are more likely to report an improvement after a 4-year period in the clinical course of the disease than …
Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.
Thomas-Wilson A, Dharmadhikari AV, Heymann JJ, Jobanputra V, DiMauro S, Hirano M, Naini AB, Ganapathi M. Thomas-Wilson A, et al. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006173. doi: 10.1101/mcs.a006173. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35022222 Free PMC article.
The second individual has a previously described homozygous missense variant, p.(Arg771Gln). Here, we describe the clinical course, enzyme-testing results using muscle tissue, and molecular findings for the individuals and add to the knowledge of the genotypic spectrum of …
The second individual has a previously described homozygous missense variant, p.(Arg771Gln). Here, we describe the clinical course, e …
35 results