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59 results

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Page 1
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. However, these patients could also develop significant heart failure or life-threatening arrhythmias during or even a …
These patients may be overlooked or misdiagnosed with unclassified congenital myopathy, especially when heart failure is not c …
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.
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
Marinella G, Orsini A, Scacciati M, Costa E, Santangelo A, Astrea G, Frosini S, Pasquariello R, Rubegni A, Sgherri G, Corsi M, Bonuccelli A, Battini R. Marinella G, et al. Genes (Basel). 2023 Jun 28;14(7):1363. doi: 10.3390/genes14071363. Genes (Basel). 2023. PMID: 37510268 Free PMC article. Review.
BACKGROUND: Congenital myopathies are a group of clinically, genetically, and histologically heterogeneous diseases caused by mutations in a large group of genes. One of these is CACNA1S, which is recognized as the cause of Dihydropyridine Receptor Congeni …
BACKGROUND: Congenital myopathies are a group of clinically, genetically, and histologically heterogeneous diseases cau …
A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies.
Mah JK, Korngut L, Fiest KM, Dykeman J, Day LJ, Pringsheim T, Jette N. Mah JK, et al. Can J Neurol Sci. 2016 Jan;43(1):163-77. doi: 10.1017/cjn.2015.311. Can J Neurol Sci. 2016. PMID: 26786644 Review.
BACKGROUND: The muscular dystrophies are a heterogeneous group of genetic muscle diseases with variable distribution of weakness and mode of inheritance. ...The overall pooled prevalence of combined muscular dystrophies was 16.14 (confidence interval [CI], 11 …
BACKGROUND: The muscular dystrophies are a heterogeneous group of genetic muscle diseases with variable distribution of weakne …
Progress in Clinical Gene Therapy for Cardiac Disorders.
Romeo FJ, Mavropoulos SA, Ishikawa K. Romeo FJ, et al. Mol Diagn Ther. 2023 Mar;27(2):179-191. doi: 10.1007/s40291-022-00632-z. Epub 2023 Jan 15. Mol Diagn Ther. 2023. PMID: 36641770 Free PMC article. Review.
Gene therapy is a promising option for many diseases, including cardiovascular diseases. In the last 30 years, gene therapy has slowly proceeded towards clinical translation and recently reached US Food and Drug Administration approval for several diseases su …
Gene therapy is a promising option for many diseases, including cardiovascular diseases. In the last 30 years, gene therapy ha …
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. Two patients with subacute combined degeneration died and posterio-lateral sclerosis of the cord was confirmed at autopsy. ...
In two patients the neuropathy occurred when treatment for congenital malabsorption of folate--an isolated lesion affecting folate al …
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 …
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 …
Endosomal phosphoinositides and human diseases.
Nicot AS, Laporte J. Nicot AS, et al. Traffic. 2008 Aug;9(8):1240-9. doi: 10.1111/j.1600-0854.2008.00754.x. Epub 2008 Apr 21. Traffic. 2008. PMID: 18429927 Free PMC article. Review.
An increasing number of human genetic diseases including myopathy and neuropathies are associated to mutations in enzymes regulating the turnover of these endosomal PIs. ...This review presents the roles of the endosomal PIs and their regulators and proposes defects …
An increasing number of human genetic diseases including myopathy and neuropathies are associated to mutations in enzymes regu …
59 results