X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the
MTM1
X-linked centronuclear myopathy
congenital myopathy
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
07 May 2023
07 May 2023
Historique:
received:
15
03
2023
revised:
01
05
2023
accepted:
02
05
2023
medline:
15
5
2023
pubmed:
13
5
2023
entrez:
13
5
2023
Statut:
epublish
Résumé
X-linked centronuclear myopathy is caused by pathogenic variants in the
Identifiants
pubmed: 37176116
pii: ijms24098409
doi: 10.3390/ijms24098409
pmc: PMC10179330
pii:
doi:
Substances chimiques
Protein Tyrosine Phosphatases, Non-Receptor
EC 3.1.3.48
myotubularin
EC 3.1.3.48
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Références
Nat Genet. 1997 Nov;17(3):353-6
pubmed: 9354806
Hum Mol Genet. 2005 Apr 1;14(7):953-65
pubmed: 15731119
Int J Mol Sci. 2021 Oct 21;22(21):
pubmed: 34768808
Hum Mutat. 1999;14(4):320-5
pubmed: 10502779
Hum Mutat. 1998;11(1):62-8
pubmed: 9450905
J Neuromuscul Dis. 2021;8(1):79-90
pubmed: 33164942
Hum Mol Genet. 1997 Sep;6(9):1499-504
pubmed: 9285787
Dev Med Child Neurol. 2020 Mar;62(3):297-302
pubmed: 31578728
Neurology. 2019 Apr 16;92(16):e1852-e1867
pubmed: 30902907
Genes (Basel). 2021 Jul 31;12(8):
pubmed: 34440373
Acta Neuropathol. 2017 Dec;134(6):889-904
pubmed: 28685322
J Mol Diagn. 2011 Sep;13(5):537-40
pubmed: 21726665
Neuromuscul Disord. 2021 Oct;31(10):1004-1012
pubmed: 34736623
Neuromuscul Disord. 1998 Oct;8(7):453-8
pubmed: 9829274
Neurology. 2003 Apr 22;60(8):1363-5
pubmed: 12707446
Neurology. 2001 Sep 11;57(5):900-2
pubmed: 11552027
Neurology. 2021 Aug 3;97(5):e501-e512
pubmed: 34011573
Hum Mol Genet. 2000 Sep 22;9(15):2223-9
pubmed: 11001925
Neurol Genet. 2020 Sep 04;6(5):e513
pubmed: 33062893
N Engl J Med. 1998 Jan 29;338(5):325-8
pubmed: 9445416
Blood. 1994 May 15;83(10):2899-905
pubmed: 8180385