Details of Disease

General Information of Disease (ID: DISXBEJO)

Disease Name	Centronuclear myopathy
Synonyms	myopathy, myotubular; myopathy, centronuclear; myotubular myopathy; CNM; centronuclear myopathy
Disease Class	8C72: Congenital myopathy
Definition	Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.
Disease Hierarchy	DISLSK9G: Congenital myopathy DISXBEJO: Centronuclear myopathy
ICD Code	ICD-11 ICD-11: 8C72.01
Disease Identifiers	MONDO ID MONDO_0018947 UMLS CUI C0175709 MedGen ID 104495 Orphanet ID 595 SNOMED CT ID 82077006

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
IONIS-DNM2-2.5Rx	DM5LM3O	Phase 2	Antisense oligonucleotide	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DMPK	TTZQTY2	Strong	Genetic Variation	[2]
RYR1	TTU5CIX	Strong	Genetic Variation	[3]
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This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCDC78	OTWZVF89	Limited	Autosomal dominant	[4]
MTMR12	OTH3V9L1	Limited	Biomarker	[5]
SPEG	OTQXWJR4	Limited	Genetic Variation	[6]
MTMR14	OTUUEY6Q	moderate	Biomarker	[7]
TTN	OT0LZ058	moderate	Genetic Variation	[8]
AMPH	OTWPGWZX	Strong	Biomarker	[9]
CCNT2	OTBDRH1J	Strong	Altered Expression	[10]
DES	OTI09KBW	Strong	Genetic Variation	[11]
ECEL1	OTJ6GNUP	Strong	Genetic Variation	[12]
GMPPB	OTJ0CCJ8	Strong	Genetic Variation	[13]
MTMR2	OTNCYGBP	Strong	Genetic Variation	[9]
PLEK	OTB73XXA	Strong	Genetic Variation	[14]
BIN1	OTK8O0X8	Definitive	Semidominant	[4]
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⏷ Show the Full List of 13 DOT(s)

References

1	Clinical pipeline report, company report or official report of Ionis Pharmaceuticals.
2	Myotonia in DNM2-related centronuclear myopathy.J Neural Transm (Vienna). 2014 May;121(5):549-53. doi: 10.1007/s00702-013-1140-8. Epub 2013 Dec 24.
3	Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength.Hum Mol Genet. 2019 Sep 15;28(18):2987-2999. doi: 10.1093/hmg/ddz092.
4	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
5	Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.PLoS Genet. 2013 Jun;9(6):e1003583. doi: 10.1371/journal.pgen.1003583. Epub 2013 Jun 20.
6	Novel SPEG variant cause centronuclear myopathy in China.J Clin Lab Anal. 2020 Feb;34(2):e23054. doi: 10.1002/jcla.23054. Epub 2019 Oct 18.
7	EDTP/MTMR14: A novel target for improved survivorship to prolonged anoxia and cellular protein aggregates.Neurosci Lett. 2019 Jul 13;705:151-158. doi: 10.1016/j.neulet.2019.04.053. Epub 2019 Apr 25.
8	Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.Sci Transl Med. 2015 Jan 14;7(270):270ra6. doi: 10.1126/scitranslmed.3010134.
9	Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.Sci Transl Med. 2019 Mar 20;11(484):eaav1866. doi: 10.1126/scitranslmed.aav1866.
10	Cyclin T2a gene maps on human chromosome 2q21.J Histochem Cytochem. 2001 Jun;49(6):693-8. doi: 10.1177/002215540104900603.
11	Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle.Mol Biol Cell. 2019 Mar 1;30(5):579-590. doi: 10.1091/mbc.E18-11-0718. Epub 2019 Jan 2.
12	ECEL1 mutation causes fetal arthrogryposis multiplex congenita.Am J Med Genet A. 2015 Apr;167A(4):731-43. doi: 10.1002/ajmg.a.37018. Epub 2015 Feb 23.
13	A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission.Neuromuscul Disord. 2019 Aug;29(8):614-617. doi: 10.1016/j.nmd.2019.07.001. Epub 2019 Jul 5.
14	Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.Neuromuscul Disord. 2010 Jan;20(1):53-6. doi: 10.1016/j.nmd.2009.10.006. Epub 2009 Nov 22.