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Quoted phrase not found in phrase index: "Congenital myopathy 23"
Page 1
Physical activity interventions for people with congenital heart disease.
Williams CA, Wadey C, Pieles G, Stuart G, Taylor RS, Long L. Williams CA, et al. Cochrane Database Syst Rev. 2020 Oct 28;10(10):CD013400. doi: 10.1002/14651858.CD013400.pub2. Cochrane Database Syst Rev. 2020. PMID: 33112424 Free PMC article.
BACKGROUND: Congenital heart disease (ConHD) affects approximately 1% of all live births. ...OBJECTIVES: To assess the effectiveness and safety of all types of physical activity interventions versus standard care in individuals with congenital heart disease. SEARCH …
BACKGROUND: Congenital heart disease (ConHD) affects approximately 1% of all live births. ...OBJECTIVES: To assess the effectiveness …
Genetic cerebellar ataxias.
Storey E. Storey E. Semin Neurol. 2014 Jul;34(3):280-92. doi: 10.1055/s-0034-1386766. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192506 Review.
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
Allen NM, O'Rahelly M, Eymard B, Chouchane M, Hahn A, Kearns G, Kim DS, Byun SY, Nguyen CE, Schara-Schmidt U, Kölbel H, Marina AD, Schneider-Gold C, Roefke K, Thieme A, Van den Bergh P, Avalos G, Álvarez-Velasco R, Natera-de Benito D, Cheng MHM, Chan WK, Wan HS, Thomas MA, Borch L, Lauzon J, Kornblum C, Reimann J, Mueller A, Kuntzer T, Norwood F, Ramdas S, Jacobson LW, Jie X, Fernandez-Garcia MA, Wraige E, Lim M, Lin JP, Claeys KG, Aktas S, Oskoui M, Hacohen Y, Masud A, Leite MI, Palace J, De Vivo D, Vincent A, Jungbluth H. Allen NM, et al. Brain. 2023 Oct 3;146(10):4233-4246. doi: 10.1093/brain/awad153. Brain. 2023. PMID: 37186601 Free PMC article.
All mothers (n = 30) had AChR antibodies and, when tested, binding to fAChR was often much greater than that to the adult AChR isoform. Offspring death occurred in 11/46 (23.9%) cases, mainly antenatally due to termination of pregnancy prompted by severe AMC (7/46, 15.2%), …
All mothers (n = 30) had AChR antibodies and, when tested, binding to fAChR was often much greater than that to the adult AChR isoform. Offs …
Pregnancy and Delivery in Women With Congenital Myopathies.
Rudnik-Schöneborn S, Wallgren-Pettersson C. Rudnik-Schöneborn S, et al. Semin Pediatr Neurol. 2019 Apr;29:23-29. doi: 10.1016/j.spen.2019.01.006. Epub 2019 Jan 16. Semin Pediatr Neurol. 2019. PMID: 31060722 Review.
Reports on pregnancy and delivery issues in women with congenital myopathies are scarce. In this review, we summarize the medical literature along with updates of our own data. Included are patients with nemaline myopathy (n = 11), central core disease (n = 6 …
Reports on pregnancy and delivery issues in women with congenital myopathies are scarce. In this review, we summarize the medi …
The neuromuscular differential diagnosis of joint hypermobility.
Donkervoort S, Bonnemann CG, Loeys B, Jungbluth H, Voermans NC. Donkervoort S, et al. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):23-42. doi: 10.1002/ajmg.c.31433. Am J Med Genet C Semin Med Genet. 2015. PMID: 25821091 Review.
Joint hypermobility is the defining feature of various inherited connective tissue disorders such as Marfan syndrome and various types of Ehlers-Danlos syndrome and these will generally be the first conditions to be considered by geneticists and pediatricians in the differential …
Joint hypermobility is the defining feature of various inherited connective tissue disorders such as Marfan syndrome and various types of Eh …
Rhabdomyolysis-Induced AKI (RIAKI) Including the Role of COVID-19.
Młynarska E, Krzemińska J, Wronka M, Franczyk B, Rysz J. Młynarska E, et al. Int J Mol Sci. 2022 Jul 26;23(15):8215. doi: 10.3390/ijms23158215. Int J Mol Sci. 2022. PMID: 35897810 Free PMC article. Review.
Rhabdomyolysis is a compound disease that may be induced by many factors, both congenital and acquired. Statin therapy is considered one of the most common acquired factors. ...
Rhabdomyolysis is a compound disease that may be induced by many factors, both congenital and acquired. Statin therapy is considered …
Congenital muscular dystrophies in China.
Ge L, Zhang C, Wang Z, Chan SHS, Zhu W, Han C, Zhang X, Zheng H, Wu L, Jin B, Shan J, Mao B, Zhong J, Peng X, Cheng Y, Hu J, Sun Y, Lu J, Hua Y, Zhu S, Wei C, Wang S, Jiao H, Yang H, Fu X, Fan Y, Chang X, Wang S, Bao X, Zhang Y, Wang J, Wu Y, Jiang Y, Yuan Y, Rutkowski A, Bönnemann CG, Wei W, Wu X, Xiong H. Ge L, et al. Clin Genet. 2019 Sep;96(3):207-215. doi: 10.1111/cge.13560. Epub 2019 Jun 6. Clin Genet. 2019. PMID: 31066047
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions. ...The most common forms identified were LAMA2-related CMD (36.4%), followed by COL6-related CMD (23.2%) and alpha-dystroglycanopathy (21.0%). The forms of CMD rel …
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions. ...The most common forms ident …
Folate responsive neuropathy.
Parry TE. Parry TE. Presse Med. 1994 Jan 29;23(3):131-7. Presse Med. 1994. PMID: 8177846 Review.
In two patients the neuropathy occurred when treatment for congenital malabsorption of folate--an isolated lesion affecting folate alone--lapsed. ...
In two patients the neuropathy occurred when treatment for congenital malabsorption of folate--an isolated lesion affecting folate al …
Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.
Teive HAG, Camargo CHF, Pereira ER, Coutinho L, Munhoz RP. Teive HAG, et al. Neurogenetics. 2022 Jul;23(3):167-177. doi: 10.1007/s10048-022-00688-3. Epub 2022 Apr 9. Neurogenetics. 2022. PMID: 35397036 Review.
This group includes 5,10-methylenetetrahydrofolate reductase deficiency, cobalamin C deficiency disease, dopamine responsive dystonia, cerebrotendinous xanthomatosis, biotinidase deficiency, GLUT1 deficiency syndrome, delta-e-pyrroline-carboxylase-synthetase deficiency, hyperonit …
This group includes 5,10-methylenetetrahydrofolate reductase deficiency, cobalamin C deficiency disease, dopamine responsive dystonia, cereb …
Eponym: Barth syndrome.
Takeda A, Sudo A, Yamada M, Yamazawa H, Izumi G, Nishino I, Ariga T. Takeda A, et al. Eur J Pediatr. 2011 Nov;170(11):1365-7. doi: 10.1007/s00431-011-1575-6. Epub 2011 Sep 23. Eur J Pediatr. 2011. PMID: 21947198 Review.
These patients may be overlooked or misdiagnosed with unclassified congenital myopathy, especially when heart failure is not clinically significant. ...Diagnostic clues of BTHS in the subclinical stage of heart failure include family histories, findings of lipid sto …
These patients may be overlooked or misdiagnosed with unclassified congenital myopathy, especially when heart failure is not c …
223 results