Centronuclear Myopathy malady

Genetics Home Reference: Centronuclear myopathy is a condition that primarily affects skeletal muscles, which are the muscles that are used for movement. Researchers have described two forms of centronuclear myopathy, which are differentiated by their pattern of inheritance: autosomal dominant and autosomal recessive.¹⁷

MalaCards: Centronuclear Myopathy, also known as myotubular myopathy, is related to inclusion body myopathy and myofibrillar myopathy. An important gene associated with Centronuclear Myopathy is MTMR14 (myotubularin related protein 14), and among its related pathways are Striated Muscle Contraction and Fructose and mannose metabolism. The compounds rapamycin and ptdins(3)p have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related mouse phenotypes are muscle and mortality/aging.

Wikipedia: Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally...⁴⁴ more...

OMIM: 160150

Aliases & Descriptions:

centronuclear myopathy 6 30 17 8 32 43 myotubular myopathy 6 7 30 17 autosomal recessive centronuclear myopathy 17 43 myopathy, centronuclear, autosomal recessive 33 myopathy, centronuclear, autosomal dominant 43

autosomal dominant myotubular myopathy 17 myotubular myopathy (disorder) 6 myopathy, centronuclear 33 myopathy, myotubular 30 myopathy 43

Disease types for centronuclear myopathy family:

centronuclear myopathy 1	centronuclear myopathy 2
centronuclear myopathy 3

Diseases related to centronuclear myopathy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 343)

id	Related Disease	Score	Top Affiliating Genes
1	inclusion body myopathy	34.8	DES, DMD, NCAM1
2	myofibrillar myopathy	33.5	TTN, DES
3	muscular dystrophy	31.7	DES, TTN, DMD, CAV3, CHKB, NCAM1
4	limb-girdle muscular dystrophy	31.2	TTN, DMD, CAV3
5	myopathy congenital	30.9	RYR1, DES, DNM2, TTN, DMD, MTM1
6	congenital fiber-type disproportion	30.2	RYR1, INSR
7	myositis	30.2	RYR1, NCAM1, CHKB, DMD, SPTB, TTN
8	cytoplasmic body myopathy	30.1	DES, DMD, CHKB
9	vacuolar myopathy	30.0	SPTB, DMD, CAV3
10	spinal muscular atrophy	29.3	DMD, MTM1, CHKB, NCAM1
11	tooth disease	29.2	DNM2, PLEK, SBF2, SBF1, MTM1, MT1DP
12	myotonic dystrophy type 2	29.2	CHKB, MTMR1, INSR
13	muscular atrophy	29.1	RYR1, DMD, CAV3, MTM1, CHKB, NCAM1
14	polymyositis	29.0	DES, TTN, DMD, CHKB, NCAM1
15	becker muscular dystrophy	28.9	SPTB, DMD, NCAM1
16	distal muscular dystrophy	28.9	DES, TTN, DMD, CAV3
17	limb-girdle muscular dystrophy, type 2b	28.4	TTN, DMD, CAV3
18	malignant hyperthermia	28.4	CHKB, DMD, RYR1
19	hypertrophic cardiomyopathy	28.3	CHKB, CAV3, DMD, TTN, DES
20	charcot-marie-tooth disease	28.2	DNM2, PLEK, SBF2, SBF1, MTM1, MTMR6
21	neuropathy	27.6	RYR1, DES, DNM2, DMD, CAV3, SBF2
22	myotonic dystrophy	27.6	RYR1, DMD, INSR, MTM1, MTMR1, CHKB
23	immunodeficiency	26.6	TTN, ACP1, AMPH, INSR, CDKN3
24	dystrophinopathies	26.3	CAV3, DMD, DES
25	calpainopathy	26.2	TTN, DMD, CAV3
26	rippling muscle disease	26.0	TTN, CAV3
27	protein s deficiency	25.9	CAV3, DMD, SPTB
28	myopathy	25.6	MTMR1, PTP4A2, PTPLA, DMD, SRPK3, SPTB
29	congenital heart defect	25.6	RYR1, TTN, ACP1, DMD, CHKB
30	duchenne muscular dystrophy	25.3	DNM2, SPTB, DMD, CAV3, CHKB
31	myasthenia gravis	25.2	RYR1, DES, TTN, DMD, CHKB, MYF6
32	muscle disorders	24.8	MYF6, BIN1, CHKB, MTMR14, MTM1, CAV3
33	neuronitis	19.8	DMD, SPTB, PLEK, ACP1, DNM3, DNM2
34	charcot-marie-tooth disease type 4b2	13.5	SBF2, SBF1
35	tnni3-related familial restrictive cardiomyopathy	13.5	DES, DMD
36	charcot-marie-tooth neuropathy type 4b2	13.5	SBF2, MTM1, MTMR2
37	charcot-marie-tooth neuropathy type 4	13.5	SBF2, MTM1, MTMR2
38	bubonic plague	13.5	CDKN3, ACP1
39	charcot-marie-tooth disease type 4	13.5	SBF2, SBF1, MTMR2
40	early-onset glaucoma	13.4	MTMR2, MTM1, SBF1, SBF2
41	charcot-marie-tooth disease type 4b1	13.4	CDKN3, SBF2, MTM1, MTMR2
42	otopalatodigital syndrome	13.4	DMD, SPTB
43	charcot-marie-tooth neuropathy	13.4	DNM2, SBF2, MTM1, MTMR2
44	alveolar soft part sarcoma	13.3	DES, TTN, MYF6
45	orbit embryonal rhabdomyosarcoma	13.3	DES, DMD, CDKN3, NCAM1
46	rhabdomyolysis, cerivastatin-induced	13.1	RYR1, DMD, CHKB
47	creatine phosphokinase, elevated serum	13.1	CAV3, CHKB
48	ptosis	13.0	DNM2, ACP1, CDKN3, MTM1, MTMR14, BIN1
49	myotonic dystrophy type 1	12.9	RYR1, INSR, MTMR1
50	glaucoma	12.7	DMD, SBF2, SBF1, MTM1, MTMR2, UBL4A

Clinical features from OMIM: 160150

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to centronuclear myopathy:

²²

MGI Mouse Phenotypes related to centronuclear myopathy:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle phenotype	MP:0005369	7.5	PIK3C3, RYR1, DES, DNM2, TTN, SRPK3
2	mortality/aging	MP:0010768	6.1	PTPMT1, DMD, SPTB, TTN, DNM3, DNM2
3	behavior/neurological phenotype	MP:0005386	5.6	AMPH, DMD, TTN, DNM3, DES, RYR1
4	homeostasis/metabolism phenotype	MP:0005376	5.2	DMD, SPTB, PLEK, TTN, DNM3, DES

Articles related to centronuclear myopathy:

(show all 33)

id	Title	Authors	Year	Affiliating Genes
1	Mutation spectrum in the large GTPase dynamin 2, and genotype- phenotype correlation in autosomal dominant centronuclear myopathy. (22396310)	Bohm J.... Laporte J.	2012	DNM2
2	Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. (20927630)	Toussaint A.... Laporte J.	2011	BIN1
3	Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations. (21221624)	Hanisch F.... Zierz S.	2011	DNM2
4	Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structur al defects and muscle weakness. (21514436)	Cowling B.S.... Laporte J.	2011	DNM2
5	Dynamin GTPase regulation is altered by PH domain mut ations found in centronuclear myopathy patients. (20700106)	Kenniston J.A.... Lemmon M.A.	2010	DNM3
6	Expanding the clinical, pathological and MRI phenotyp e of DNM2-related centronuclear myopathy. (20227276)	Susman R.D.... North K.N.	2010	DNM2
7	Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation. (21129173)	BAPhm J.... Laporte J.	2010	BIN1
8	Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation. (19932620)	Jungbluth H.... Muntoni F.	2010	DNM2, PLEK
9	Centronuclear myopathies: a widening concept. (20181480)	Romero N.B.	2010	MTM1, BIN1
10	Severe phenotype of a patient with autosomal recessiv e centronuclear myopathy due to a BIN1 mutation. (20476667)	Mejaddam A.Y.... Sejersen T.	2009	BIN1
11	'Necklace' fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. (19084976)	Bevilacqua J.A.... Romero N.B.	2009	MTM1
12	A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation. (19122038)	Bitoun M.... Romero N.B.	2009	DNM2
13	Clinical and biopsy-based myopathological features of 5 cases with centronuclear myopathy (19099905)	Li H.H.... Yan C.Z.	2008	CHKB
14	Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. (17932957)	Bitoun M.... Guicheney P.	2007	DNM2
15	Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. (17676042)	Nicot A.S.... Laporte J.	2007	DNM2, MTM1, BIN1
16	Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy (18154705)	Toussaint A.... Laporte J.	2007	BIN1
17	MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement. (17134899)	Schessl J.... Bonnemann C.G.	2007	DNM2
18	Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. (17825552)	Echaniz-Laguna A.... Laporte J.	2007	DNM2
19	Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. (17376685)	Jungbluth H.... Muntoni F.	2007	DNM2, MTM1, RYR1
20	Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. (16585051)	Fischer D.... Romero N.B.	2006	DNM2
21	A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. (17008356)	Tosch V.... Laporte J.	2006	MTM1, CDKN3, MTMR14
22	Mutations in dynamin 2 cause dominant centronuclear myopathy (16457739)	Bitoun M.... Guicheney P.	2006	DNM2
23	SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. (15829503)	Pele M.... Panthier J.J.	2005	MTM1
24	X-linked myotubular and centronuclear myopathies. (16042307)	Pierson C.R.... Beggs A.H.	2005	MTM1
25	Mutations in dynamin 2 cause dominant centronuclear myopathy. (16227997)	Bitoun M.... Guicheney P.	2005	DNM2
26	Centronuclear myopathy in mice lacking a novel muscle-specific protein kinase transcriptionally regulated by MEF2. (16140986)	Nakagawa O.... Olson E.N.	2005	SRPK3
27	The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2. (12884002)	Tiret L.... Panthier J.J.	2003	MTM1, CDKN3
28	Caveolin-3 and sarcoglycans in the vacuolar myopathies and centronuclear myopathy. (10417791)	Inose M.... Osame M.	1999	DMD, CAV3, SPTB
29	Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies. (7935525)	Mora M.... Daniel S.	1994	DMD, SPTB
30	Neonatal centronuclear myopathy with N-CAM decorated myotubes. (7969799)	FidziaA8ska A.... Goebel H.H.	1994	NCAM1
31	Expression of cell surface and cytoskeleton developmentally regulated proteins in adult centronuclear myopathies. (1517767)	Figarella-Branger D.... Pellissier J.F.	1992	DES, NCAM1
32	X-linked centronuclear myopathy: mapping the gene to Xq28. (1822801)	Liechti-Gallati S.... Braga S.	1991	MTM1
33	Centronuclear myopathy--an inherited neuromuscular di sorder. A report of 3 cases. (1887355)	Isaacs H.... Badenhorst M.E.	1991	INSR

Genes related to centronuclear myopathy according to GeneCards:

(show all 37)

id	Symbol	Description	Score	GeneCards Section Context
1	MTMR14	myotubularin related protein 14	11.1	Summaries, Publications
2	MYF6	myogenic factor 6 (herculin)	11.1	Summaries
3	MTM1	myotubularin 1	11.0	Publications
4	DNM2	dynamin 2	11.0	Publications
5	SBF1	SET binding factor 1	11.0
6	PTP4A2	protein tyrosine phosphatase type IVA, member 2	11.0
7	PLEK	pleckstrin	11.0	Publications
8	MTMR2	myotubularin related protein 2	11.0
9	RYR1	ryanodine receptor 1 (skeletal)	11.0	Publications
10	DES	desmin	11.0	Publications
11	ACP1	acid phosphatase 1, soluble	11.0
12	TTN	titin	11.0
13	CDKN3	cyclin-dependent kinase inhibitor 3	11.0	Publications
14	NCAM1	neural cell adhesion molecule 1	11.0	Publications
15	SBF2	SET binding factor 2	11.0
16	DMD	dystrophin	11.0	Publications
17	MT1DP	metallothionein 1D, pseudogene	11.0
18	PTPMT1	protein tyrosine phosphatase, mitochondrial 1	11.0	Disorders
19	SRPK3	SRSF protein kinase 3	11.0	Publications
20	BIN1	bridging integrator 1	11.0	Publications
21	PTPLA	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	11.0
22	CAV3	caveolin 3	11.0	Publications
23	ATP2B3	ATPase, Ca++ transporting, plasma membrane 3	11.0	Disorders
24	MTMR1	myotubularin related protein 1	11.0
25	MTMR6	myotubularin related protein 6	11.0
26	SPTB	spectrin, beta, erythrocytic	11.0	Publications
27	MTMR12	myotubularin related protein 12	11.0
28	MTMR8	myotubularin related protein 8	11.0
29	UBL4A	ubiquitin-like 4A	11.0
30	PIK3R4	phosphoinositide-3-kinase, regulatory subunit 4	11.0	Disorders
31	PIK3C3	phosphatidylinositol 3-kinase, catalytic subunit type 3	11.0
32	CHKB	choline kinase beta	11.0	Publications
33	MTMR3	myotubularin related protein 3	11.0
34	GABRA3	gamma-aminobutyric acid (GABA) A receptor, alpha 3	11.0
35	AMPH	amphiphysin	11.0
36	DNM3	dynamin 3	11.0	Publications
37	INSR	insulin receptor	11.0	Publications

Pathways related to centronuclear myopathy according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Striated Muscle Contraction38	9.9	DES, TTN, DMD
2	Fructose and mannose metabolism20	9.8	MTMR2, MTMR1, MTMR6
3	Transport_Clathrin-coated vesicle cycle41	9.1	PIK3R4, PIK3C3, BIN1, DNM2
4	Metabolism of lipids and lipoproteins38	8.8	CHKB, MTMR3, MTMR2, MTMR1, MTMR14, MTMR6

Compounds related to centronuclear myopathy according to GeneDecks:

(show all 48)

id	Compound	Score	Top Affiliating Genes
1	rapamycin32 42	11.6	ACP1, RYR1
2	ptdins(3)p32	10.4	MTM1, CDKN3, PLEK
3	phosphatidylinositol 3-phosphate32	10.3	MTMR12, MTMR6, MTM1
4	alpha-bungarotoxin32	10.1	DMD, DES
5	gold32	9.9	DES, TTN, DMD, NCAM1
6	phosphoserine32 18	10.9	ACP1, PTP4A2, INSR, CDKN3
7	vanadate32	9.9	ACP1, PTP4A2, INSR, CDKN3
8	dynamin inhibitory peptide42	9.9	DNM2, DNM3
9	dynamin inhibitory peptide, myristoylated 42	9.9	DNM2, DNM3
10	gsno32	9.9	CDKN3, INSR, RYR1
11	dynasore42	9.9	DNM2, DNM3
12	n-ethylmaleimide32 9 9	11.8	RYR1, ACP1, INSR, CDKN3
13	inositol32	9.8	RYR1, ACP1, PLEK, INSR, CDKN3
14	biotin32 9 18 9	12.7	CDKN3, INSR, DMD, DES
15	isoproterenol32 9 9	11.6	RYR1, ACP1, DMD, CAV3, INSR
16	pip232	9.6	RYR1, DNM3, TTN, PLEK
17	gaba32 42	10.6	RYR1, ACP1, INSR, CDKN3, NCAM1
18	sodium orthovanadate32	9.5	ACP1, PTP4A2, INSR, CDKN3, MTMR3
19	phosphatidylinositol-3,4,5-trisphosphate32 18	10.5	PLEK, INSR, CDKN3, PIK3C3
20	fluoride32	9.4	CDKN3, ACP1, DNM3
21	mannitol32 9 9	11.3	SPTB, INSR, CDKN3, CHKB
22	wortmannin32 42	10.1	ACP1, PLEK, INSR, CDKN3, PIK3C3, PIK3R4
23	bafilomycin a132 42 9 9	12.1	DES, DNM3, INSR
24	phenylarsine oxide32	9.1	DNM3, ACP1, PTP4A2, INSR, CDKN3
25	polyacrylamide32	9.0	DES, DNM3, TTN, DMD, CHKB
26	potassium32 9 18 9	11.9	RYR1, DNM3, TTN, DMD, CHKB, NCAM1
27	phosphotyrosine32	8.9	DNM3, ACP1, PLEK, PTP4A2, INSR, CDKN3
28	creatinine32	8.9	RYR1, DES, TTN, DMD, CAV3, INSR
29	cytochalasin d32 42	9.8	DNM3, ACP1, INSR, CDKN3
30	nmda32 42	9.8	RYR1, DNM3, ACP1, PTP4A2, INSR, CDKN3
31	proline32	8.6	RYR1, DES, DNM2, DNM3, TTN, PLEK
32	acetylcholine32 9 18 9	11.6	RYR1, DES, TTN, ACP1, DMD, AMPH
33	nitric oxide32 9 18 9	11.6	RYR1, DES, DNM2, DNM3, DMD, PTP4A2
34	glutamine32	8.5	RYR1, DNM3, ACP1, DMD, INSR, CHKB
35	dopamine32 9 18 9	11.4	DNM2, DNM3, ACP1, INSR, CHKB, NCAM1
36	sodium32 18	9.4	DNM3, SPTB, DMD, PTP4A2, CAV3, NCAM1
37	glycogen32 18	9.3	DES, DNM3, TTN, DMD, CAV3, INSR
38	arginine32	8.3	RYR1, DES, DNM3, ACP1, PLEK, DMD
39	threonine32	8.3	DES, DNM3, TTN, ACP1, PLEK, SPTB
40	phosphoinositide32	8.2	DNM2, DNM3, ACP1, PLEK, PTPMT1, INSR
41	alanine32	8.2	RYR1, DNM3, ACP1, PLEK, DMD, INSR
42	tyrosine32	8.0	DES, DNM2, DNM3, ACP1, PLEK, DMD
43	serine32	7.9	RYR1, DES, DNM3, TTN, ACP1, PLEK
44	cysteine32	7.8	RYR1, DES, DNM3, TTN, ACP1, PLEK
45	glutamate32	7.6	ACP1, TTN, DNM3, RYR1, PLEK, AMPH
46	calcium32 9 18 9	10.3	RYR1, DES, DNM3, TTN, PLEK, DMD
47	phosphatidylinositol32	7.1	CAV3, PLEK, ACP1, DNM3, DNM2, AMPH
48	lipid32	6.5	DMD, SPTB, PLEK, DNM3, DNM2, RYR1

Cellular components related to centronuclear myopathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:005829	6.2	PIK3R4, DNM2, TTN, PLEK, SPTB, DMD

Biological processes related to centronuclear myopathy according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	muscle filament sliding	GO:030049	10.0	DMD, TTN, DES
2	phosphatidylinositol dephosphorylation	GO:046856	9.5	MTMR3, MTMR2, MTM1
3	peptidyl-tyrosine dephosphorylation	GO:035335	9.4	MTMR3, MTMR6, CDKN3, PTPLA
4	protein dephosphorylation	GO:006470	9.3	PTPLA, SBF1, MTM1, MTMR6, MTMR2, MTMR3
5	phosphatidylinositol biosynthetic process	GO:006661	8.6	PIK3R4, MTM1, MTMR6, MTMR14, MTMR1, MTMR2
6	endocytosis	GO:006897	8.4	DNM2, DNM3, CAV3, AMPH, BIN1
7	phospholipid metabolic process	GO:006644	8.2	MTM1, MTMR6, MTMR14, MTMR1, MTMR2, MTMR3

Molecular functions related to centronuclear myopathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein tyrosine/serine/threonine phosphatase activity	GO:008138	10.0	MTMR2, SBF1, CDKN3
2	phosphatidylinositol-3-phosphatase activity	GO:004438	9.6	MTM1, MTMR14, MTMR1, MTMR3
3	protein serine/threonine phosphatase activity	GO:004722	9.3	CDKN3, MTMR6, MTMR3
4	protein tyrosine phosphatase activity	GO:004725	8.4	MTMR8, PTPMT1, PTPLA, CDKN3, MTM1, MTMR6
5	protein binding	GO:005515	5.5	DNM2, DNM3, TTN, ACP1, PLEK, SPTB