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Quoted phrase not found in phrase index: "Compton-North congenital myopathy"
Page 1
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ. Amburgey K, et al. Orphanet J Rare Dis. 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. Orphanet J Rare Dis. 2013. PMID: 23919265 Free PMC article.
BACKGROUND: RYR1 mutations are typically associated with core myopathies and are the most common overall cause of congenital myopathy. ...The recent availability of genetic testing for the entire RYR1 coding sequence has led to a dramatic expansion in the ide …
BACKGROUND: RYR1 mutations are typically associated with core myopathies and are the most common overall cause of congenital …
X-linked myotubular myopathy.
Lawlor MW, Dowling JJ. Lawlor MW, et al. Neuromuscul Disord. 2021 Oct;31(10):1004-1012. doi: 10.1016/j.nmd.2021.08.003. Neuromuscul Disord. 2021. PMID: 34736623 Free article. Review.
X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by mutation in the MTM1 gene. ...The disease is classically defined by characteristic changes observed on muscle biopsy, including centrally located nuclei, myofiber hypotrophy, …
X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by mutation in the MTM1 gene. ...The disease …
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB. Garibaldi M, et al. Acta Neuropathol Commun. 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. Acta Neuropathol Commun. 2019. PMID: 30611313 Free PMC article.
We named Dusty Core Disease (DuCD) the corresponding entity of congenital myopathy. Dusty cores had peculiar histological and ultrastructural characteristics compared to the other core diseases. DuCD muscle biopsies also showed nuclear centralization and type …
We named Dusty Core Disease (DuCD) the corresponding entity of congenital myopathy. Dusty cores had peculiar histological and …
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Neurology. 2023 Jul 18;101(3):e238-e252. doi: 10.1212/WNL.0000000000207402. Epub 2023 Jun 2. Neurology. 2023. PMID: 37268435 Free PMC article. Clinical Trial.
Primary efficacy endpoints included change from baseline to week 24 on the distance walked on the 6-minute walk test (6MWT) and total fatigue on the Primary Mitochondrial Myopathy Symptom Assessment (PMMSA). Secondary endpoints included most bothersome symptom score …
Primary efficacy endpoints included change from baseline to week 24 on the distance walked on the 6-minute walk test (6MWT) and total fatigu …
Effect of physical therapy treatment in infants treated for congenital muscular torticollis - a narrative review.
Bashir A, Amjad F, Ahmad A, Arooj A, Gilani SA. Bashir A, et al. J Pak Med Assoc. 2023 Jan;73(1):111-116. doi: 10.47391/JPMA.3852. J Pak Med Assoc. 2023. PMID: 36842018 Free article. Review.
To determine the effectiveness of physical therapy treatment in infants treated for congenital muscular torticollis, relevant articles published between 2011 and 2020 were located using electronic databases. ...The studies typically found significant statistical eff …
To determine the effectiveness of physical therapy treatment in infants treated for congenital muscular torticollis, relevant …
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
Mroczek M, Longman C, Farrugia ME, Kapetanovic Garcia S, Ardicli D, Topaloglu H, Hernández-Laín A, Orhan D, Alikasifoglu M, Duff J, Specht S, Nowak K, Ravenscroft G, Chao K, Valivullah Z, Donkervoort S, Saade D, Bönnemann C, Straub V, Yoon G. Mroczek M, et al. J Med Genet. 2022 Nov;59(11):1069-1074. doi: 10.1136/jmedgenet-2021-108341. Epub 2022 Apr 7. J Med Genet. 2022. PMID: 35393337 Free PMC article.
Muscle biopsy showed multi-minicores and type I fibre predominance with internalised nuclei. CONCLUSION: FXR1-related congenital myopathy is an emerging entity that is clinically recognisable. ...Our work broadens the phenotypic spectrum of FXR1-related congenita …
Muscle biopsy showed multi-minicores and type I fibre predominance with internalised nuclei. CONCLUSION: FXR1-related congenital m …
Recent advances in understanding congenital myopathies.
Ravenscroft G, Bryson-Richardson RJ, Nowak KJ, Laing NG. Ravenscroft G, et al. F1000Res. 2018 Dec 11;7:F1000 Faculty Rev-1921. doi: 10.12688/f1000research.16422.1. eCollection 2018. F1000Res. 2018. PMID: 30631434 Free PMC article. Review.
By definition, congenital myopathy typically presents with skeletal muscle weakness and hypotonia at birth. ...Thus, the congenital myopathy genes remaining to be discovered are predicted to be extremely rare causes of disease, which greatly ham …
By definition, congenital myopathy typically presents with skeletal muscle weakness and hypotonia at birth. ...Thus, the co …
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello RCM, Zatz M, Reed U, Zanoteli E, Oliveira AB, Lehtokari VL, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M. Gurgel-Giannetti J, et al. Int J Mol Sci. 2022 Oct 9;23(19):11995. doi: 10.3390/ijms231911995. Int J Mol Sci. 2022. PMID: 36233295 Free PMC article.
Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. ...Clinically, the "typical" form was the more frequent and caused by mutations in the different NM genes. Phenotypic heterogeneity was obs …
Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. .. …
Trouble at the junction: When myopathy and myasthenia overlap.
Nicolau S, Kao JC, Liewluck T. Nicolau S, et al. Muscle Nerve. 2019 Dec;60(6):648-657. doi: 10.1002/mus.26676. Epub 2019 Sep 10. Muscle Nerve. 2019. PMID: 31449669 Review.
Affected individuals have variable clinical phenotypes but typically display both a decrement on repetitive nerve stimulation and myopathic findings on muscle biopsy. Inherited causes include myopathies related to mutations in BIN1, DES, DNM2, GMPPB, MTM1, or PLEC and c …
Affected individuals have variable clinical phenotypes but typically display both a decrement on repetitive nerve stimulation and myopathic …
Skeletal Muscle Disorders: A Noncardiac Source of Cardiac Troponin T.
du Fay de Lavallaz J, Prepoudis A, Wendebourg MJ, Kesenheimer E, Kyburz D, Daikeler T, Haaf P, Wanschitz J, Löscher WN, Schreiner B, Katan M, Jung HH, Maurer B, Hammerer-Lercher A, Mayr A, Gualandro DM, Acket A, Puelacher C, Boeddinghaus J, Nestelberger T, Lopez-Ayala P, Glarner N, Shrestha S, Manka R, Gawinecka J, Piscuoglio S, Gallon J, Wiedemann S, Sinnreich M, Mueller C; BASEL XII Investigators. du Fay de Lavallaz J, et al. Circulation. 2022 Jun 14;145(24):1764-1779. doi: 10.1161/CIRCULATIONAHA.121.058489. Epub 2022 Apr 7. Circulation. 2022. PMID: 35389756 Free PMC article.
METHODS: We prospectively enrolled patients presenting with muscular complaints (2 weeks) for elective evaluation in 4 hospitals in 2 countries. ...CONCLUSIONS: In patients with active chronic SMD, elevations in cTnT concentrations are common and not attributable to cardia …
METHODS: We prospectively enrolled patients presenting with muscular complaints (2 weeks) for elective evaluation in 4 hospitals in 2 …
1,411 results