Details of Disease

General Information of Disease (ID: DISRQ3NV)

Disease Name	Duchenne muscular dystrophy
Synonyms	muscular dystrophy, Duchenne type; muscular dystrophy, pseudohypertrophic progressive, Duchenne type; severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy, X-linked recessive; muscular dystrophy, Duchenne; DMD; Duchenne muscular dystrophy
Disease Class	8C70: Muscular dystrophy
Definition	Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
Disease Hierarchy	DIS4550J: Muscle wasting disease DISRQ3NV: Duchenne muscular dystrophy
ICD Code	ICD-11 ICD-11: 8C70.1
Disease Identifiers	MONDO ID MONDO_0010679 MESH ID D020388 UMLS CUI C0013264 OMIM ID 310200 MedGen ID 3925 Orphanet ID 98896 SNOMED CT ID 76670001

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
Vamorolone	DM047HI	Approved	NA	[1]
------------------------------------------------------------------------------------

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Fordadistrogene movaparvovec	DMZ3X7F	Phase 3	Gene therapy	[2]
P-188 NF	DMG864V	Phase 2	NA	[3]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 40 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DAG1	TT4X7PG	Limited	Genetic Variation	[4]
BGN	TT0JPVF	moderate	Biomarker	[5]
PPARD	TT2JWF6	moderate	Biomarker	[6]
ACVR2B	TTLFRKS	Strong	Biomarker	[7]
ADAMTS5	TTXSU2Y	Strong	Biomarker	[8]
ADCY1	TTV1ZSQ	Strong	Genetic Variation	[9]
ATP2A2	TTE6THL	Strong	Genetic Variation	[10]
CA3	TTXUK5D	Strong	Biomarker	[11]
CAPN1	TT1WBIJ	Strong	Biomarker	[12]
CAPN2	TTG5QB7	Strong	Biomarker	[13]
CARM1	TTIZQFJ	Strong	Posttranslational Modification	[14]
CASP4	TT6KIOT	Strong	Biomarker	[15]
CLK1	TTE6YDG	Strong	Biomarker	[16]
CTSC	TT4H0V2	Strong	Biomarker	[17]
DCN	TTB3XAN	Strong	Biomarker	[18]
DPEP1	TTYUENF	Strong	Biomarker	[19]
DYSF	TTA7MXQ	Strong	Genetic Variation	[20]
FABP5	TTNT2S6	Strong	Altered Expression	[21]
FST	TTDNM9W	Strong	Biomarker	[22]
G6PD	TTKN8W0	Strong	Altered Expression	[23]
LIPG	TTHSZXO	Strong	Biomarker	[24]
MSTN	TTM8I2X	Strong	Biomarker	[25]
NR0B1	TTTK36V	Strong	Genetic Variation	[26]
NR3C2	TT26PHO	Strong	Biomarker	[27]
OTC	TT5KIO9	Strong	Biomarker	[28]
PLN	TTMCVJF	Strong	Biomarker	[29]
PPID	TTNAFOU	Strong	Biomarker	[30]
PPIF	TTRFQTB	Strong	Biomarker	[30]
PRKCQ	TT1MS7X	Strong	Biomarker	[31]
PTPN1	TTELIN2	Strong	Genetic Variation	[9]
RGS12	TTP9AV7	Strong	Altered Expression	[32]
RGS6	TTJ96M8	Strong	Genetic Variation	[9]
SGCA	TTS9Q5V	Strong	Biomarker	[33]
SGCG	TTSMT9W	Strong	Biomarker	[34]
ST8SIA4	TTDP8YM	Strong	Genetic Variation	[35]
TNFRSF11B	TT2CJ75	Strong	Altered Expression	[36]
CCL2	TTNAY0P	Definitive	Biomarker	[37]
CD4	TTN2JFW	Definitive	Biomarker	[37]
DMD	TT2TNRM	Definitive	X-linked	[38]
POSTN	TT8ALTZ	Definitive	Biomarker	[37]
------------------------------------------------------------------------------------


⏷ Show the Full List of 40 DTT(s)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MMEL1	DEYCUQ2	Definitive	Biomarker	[39]
------------------------------------------------------------------------------------

This Disease Is Related to 80 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CAPN3	OTCHG3YK	Limited	Biomarker	[40]
LTBP4	OTC8WL2V	Limited	Biomarker	[5]
MAGEB16	OTJ0N8E9	Limited	Genetic Variation	[41]
PTRH2	OTBU39Q1	moderate	Altered Expression	[42]
SLN	OTERIU75	moderate	Biomarker	[43]
ACSL4	OTI71MUJ	Strong	Biomarker	[44]
ACTN3	OT9DZ7JQ	Strong	Genetic Variation	[45]
ADCY8	OTR1WCZX	Strong	Genetic Variation	[9]
AQP4	OTA9MYD5	Strong	Altered Expression	[46]
ASH1L	OTUT5NLJ	Strong	Altered Expression	[47]
ATAD1	OTJ02XFL	Strong	Genetic Variation	[48]
B4GALNT2	OT85V4QV	Strong	Altered Expression	[49]
BEST1	OTWHE1ZC	Strong	Biomarker	[50]
CAPNS1	OT95EBBD	Strong	Biomarker	[51]
CASQ1	OTAY8WOO	Strong	Biomarker	[52]
CAV3	OTWSFDB4	Strong	Altered Expression	[53]
CCL28	OTY6XNQ7	Strong	Biomarker	[54]
CMYA5	OTYV0RME	Strong	Biomarker	[55]
DNAH8	OTGES2OU	Strong	Biomarker	[56]
DNAJB2	OTZHPV5M	Strong	Altered Expression	[57]
DOCK1	OTCFV3ON	Strong	Genetic Variation	[9]
DTNBP1	OT9UQT2S	Strong	Biomarker	[58]
DYNLT3	OT26QKCI	Strong	Genetic Variation	[59]
EFEMP2	OT0I2B4J	Strong	Biomarker	[60]
EIF3K	OTGTKVGO	Strong	Altered Expression	[61]
ELP1	OTYEWBF7	Strong	Biomarker	[62]
EMD	OTR8ZANE	Strong	Biomarker	[63]
FAM111B	OT9IQ9NV	Strong	Biomarker	[51]
FAM168B	OT312DUH	Strong	Biomarker	[64]
FKTN	OTQ9GCXL	Strong	Genetic Variation	[65]
FSD1	OT8P6PT3	Strong	Biomarker	[66]
FSD1L	OTBQ48RF	Strong	Biomarker	[66]
GK	OTK2YRA0	Strong	Genetic Variation	[41]
GPC1	OTQKRSSV	Strong	Biomarker	[67]
HAP1	OT6SG0JQ	Strong	Biomarker	[68]
HIVEP1	OT7CAG4A	Strong	Biomarker	[60]
HJV	OT4235J2	Strong	Biomarker	[69]
HPX	OT14T7Q1	Strong	Biomarker	[70]
ITGA7	OTTBTAYW	Strong	Biomarker	[71]
KLF15	OTGMQMVR	Strong	Altered Expression	[72]
LAMA2	OTFROQWE	Strong	Biomarker	[73]
LARGE1	OTUH7H9F	Strong	Altered Expression	[4]
LRPAP1	OT6DVD2Q	Strong	Biomarker	[7]
MB	OTYWYL2D	Strong	Biomarker	[74]
MYCL	OT1MFQ5U	Strong	Genetic Variation	[75]
MYOD1	OTV2S79X	Strong	Biomarker	[76]
NLN	OTFRITPU	Strong	Biomarker	[77]
PAMR1	OT83ZH5U	Strong	Biomarker	[78]
PANX1	OTXPEDOK	Strong	Altered Expression	[79]
PANX3	OTKRQZ1T	Strong	Altered Expression	[79]
PAX7	OTDMQRPO	Strong	Altered Expression	[80]
PIK3C2A	OTFBU4GD	Strong	Altered Expression	[81]
PITPNA	OTTWC00K	Strong	Biomarker	[82]
PLA1A	OT2IXYNX	Strong	Biomarker	[83]
PRG2	OT0BCPQG	Strong	Biomarker	[60]
RAB40AL	OTZWO8A5	Strong	Genetic Variation	[84]
RAB40C	OTM2V2R0	Strong	Genetic Variation	[84]
RNF213	OT4OVE9O	Strong	Genetic Variation	[85]
SCAF1	OT16TM3N	Strong	Biomarker	[86]
SDC3	OT1P0LJM	Strong	Biomarker	[67]
SEPTIN1	OT4GVSU3	Strong	Biomarker	[87]
SGCD	OTRBL3NQ	Strong	Biomarker	[34]
SHKBP1	OTJXWLEH	Strong	Genetic Variation	[9]
SHOX	OTE0YZJO	Strong	Altered Expression	[88]
SLMAP	OTHW3DVC	Strong	Biomarker	[89]
SNTA1	OTUICTGZ	Strong	Biomarker	[90]
SNTG1	OT6GBQHI	Strong	Genetic Variation	[91]
SSPN	OTYG2SL7	Strong	Biomarker	[92]
SUN1	OTIU8V4U	Strong	Genetic Variation	[93]
SUN2	OT2IQJUC	Strong	Genetic Variation	[93]
SYNM	OTOI8TRJ	Strong	Altered Expression	[94]
TAS2R38	OTX5MM36	Strong	Biomarker	[95]
THBS4	OTA1T9KK	Strong	Biomarker	[96]
TIMP4	OT8A68SW	Strong	Biomarker	[97]
TPPP3	OTU8VUIG	Strong	Biomarker	[64]
TRIM32	OTJOV0PG	Strong	Altered Expression	[98]
TRIM72	OTFAFXPC	Strong	Biomarker	[99]
TTN	OT0LZ058	Strong	Biomarker	[100]
DMD	OTD21T5J	Definitive	X-linked	[38]
PLXNB1	OTCA7JIT	Definitive	Biomarker	[39]
------------------------------------------------------------------------------------


⏷ Show the Full List of 80 DOT(s)

References

1	FDA Approved Drug Products from FDA Official Website. 2023. Application Number: 215239
2	ClinicalTrials.gov (NCT05689164) Long-term Follow-up Safety and Efficacy Study in Participants With Duchenne Muscular Dystrophy Who Have Received Fordadistrogene Movaparvovec in a Preceding Clinical Study. U.S.National Institutes of Health.
3	ClinicalTrials.gov (NCT03558958) An Exploratory, Open-label Study to Assess the Effect of P-188 NF (Carmeseal-MD) on Safety, on Respiratory and Cardiac Dysfunction and on Upper Limb Strength in Non-ambulatory Patients With Duchenne Muscular Dystrophy (DMD). U.S.National Institutes of Health.
4	LARGE expression in different types of muscular dystrophies other than dystroglycanopathy.BMC Neurol. 2018 Dec 15;18(1):207. doi: 10.1186/s12883-018-1207-0.
5	Non-Glycanated Biglycan and LTBP4: Leveraging the extracellular matrix for Duchenne Muscular Dystrophy therapeutics.Matrix Biol. 2018 Aug;68-69:616-627. doi: 10.1016/j.matbio.2018.02.016. Epub 2018 Feb 23.
6	PPAR modulation rescues mitochondrial fatty acid oxidation defects in the mdx model of muscular dystrophy.Mitochondrion. 2019 May;46:51-58. doi: 10.1016/j.mito.2018.02.006. Epub 2018 Feb 16.
7	Postnatal Hyperplasic Effects of ActRIIB Blockade in a Severely Dystrophic Muscle.J Cell Physiol. 2017 Jul;232(7):1774-1793. doi: 10.1002/jcp.25694. Epub 2017 Feb 16.
8	Identification of novel, therapy-responsive protein biomarkers in a mouse model of Duchenne muscular dystrophy by aptamer-based serum proteomics.Sci Rep. 2015 Nov 23;5:17014. doi: 10.1038/srep17014.
9	Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.Ann Neurol. 2018 Aug;84(2):234-245. doi: 10.1002/ana.25283. Epub 2018 Aug 25.
10	DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient.Stem Cell Res Ther. 2019 Jan 15;10(1):29. doi: 10.1186/s13287-018-1125-5.
11	Fetal plasma carbonic anhydrase III in prenatal diagnosis of Duchenne muscular dystrophy.Am J Med Genet. 1985 Jan;20(1):115-22. doi: 10.1002/ajmg.1320200114.
12	Utrophin is a calpain substrate in muscle cells.Muscle Nerve. 2006 Jun;33(6):753-9. doi: 10.1002/mus.20549.
13	Altered expression, intracellular distribution and activity of lymphocyte calpain II in Duchenne muscular dystrophy.Clin Chim Acta. 2006 Nov;373(1-2):82-7. doi: 10.1016/j.cca.2006.05.004. Epub 2006 May 12.
14	The Dystrophin Glycoprotein Complex Regulates the Epigenetic Activation of Muscle Stem Cell Commitment.Cell Stem Cell. 2018 May 3;22(5):755-768.e6. doi: 10.1016/j.stem.2018.03.022. Epub 2018 Apr 19.
15	Caspase-12 ablation preserves muscle function in the mdx mouse.Hum Mol Genet. 2014 Oct 15;23(20):5325-41. doi: 10.1093/hmg/ddu249. Epub 2014 May 30.
16	Novel CLK1 inhibitors based on N-aryloxazol-2-amine skeleton - A possible way to dual VEGFR2 TK/CLK ligands.Eur J Med Chem. 2017 Jan 27;126:754-761. doi: 10.1016/j.ejmech.2016.11.003. Epub 2016 Nov 18.
17	Dipeptidyl peptidase I in cultured fibroblasts in Duchenne muscular dystrophy.Muscle Nerve. 1986 Feb;9(2):152-4. doi: 10.1002/mus.880090208.
18	Decorin promotes myogenic differentiation and mdx mice therapeutic effects after transplantation of rat adipose-derived stem cells.Cytotherapy. 2012 Aug;14(7):877-86. doi: 10.3109/14653249.2012.688944. Epub 2012 Jun 4.
19	SPECT Imaging of Muscle Injury with [(99m)Tc]MDP in a Mouse Model of Muscular Dystrophy.Mol Imaging Biol. 2020 Jun;22(3):562-568. doi: 10.1007/s11307-019-01394-7.
20	Therapeutic exon skipping for dysferlinopathies?.Eur J Hum Genet. 2010 Aug;18(8):889-94. doi: 10.1038/ejhg.2010.4. Epub 2010 Feb 10.
21	Proteomic profiling of liver tissue from the mdx-4cv mouse model of Duchenne muscular dystrophy.Clin Proteomics. 2018 Oct 29;15:34. doi: 10.1186/s12014-018-9212-2. eCollection 2018.
22	Protein Engineering on Human Recombinant Follistatin: Enhancing Pharmacokinetic Characteristics for Therapeutic Application.J Pharmacol Exp Ther. 2018 Aug;366(2):291-302. doi: 10.1124/jpet.118.248195. Epub 2018 May 11.
23	Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier.Am J Hum Genet. 1989 Jun;44(6):820-6.
24	Utrophin haploinsufficiency does not worsen the functional performance, resistance to eccentric contractions and force production of dystrophic mice.PLoS One. 2018 Jun 7;13(6):e0198408. doi: 10.1371/journal.pone.0198408. eCollection 2018.
25	Glucocorticoids counteract hypertrophic effects of myostatin inhibition in dystrophic muscle.JCI Insight. 2020 Jan 16;5(1):e133276. doi: 10.1172/jci.insight.133276.
26	Noninvasive neurophysiological mapping of the lower urinary tract in adult and aging rhesus macaques.J Neurophysiol. 2018 Apr 1;119(4):1521-1527. doi: 10.1152/jn.00840.2017. Epub 2018 Jan 17.
27	Mineralocorticoid receptor antagonists improve membrane integrity independent of muscle force in muscular dystrophy.Hum Mol Genet. 2019 Jun 15;28(12):2030-2045. doi: 10.1093/hmg/ddz039.
28	Mental retardation locus in Xp21 chromosome microdeletion.Am J Med Genet. 1993 Jun 1;46(4):363-8. doi: 10.1002/ajmg.1320460404.
29	Exacerbation of dystrophic cardiomyopathy by phospholamban deficiency mediated chronically increased cardiac Ca(2+) cycling in vivo.Am J Physiol Heart Circ Physiol. 2018 Dec 1;315(6):H1544-H1552. doi: 10.1152/ajpheart.00341.2018. Epub 2018 Aug 17.
30	Chemical genetics unveils a key role of mitochondrial dynamics, cytochrome c release and IP3R activity in muscular dystrophy.Hum Mol Genet. 2013 Nov 15;22(22):4562-78. doi: 10.1093/hmg/ddt302. Epub 2013 Jun 25.
31	Pharmacological Inhibition of PKC Counteracts Muscle Disease in a Mouse Model of Duchenne Muscular Dystrophy.EBioMedicine. 2017 Feb;16:150-161. doi: 10.1016/j.ebiom.2017.01.001. Epub 2017 Jan 7.
32	A role for Regulator of G protein Signaling-12 (RGS12) in the balance between myoblast proliferation and differentiation.PLoS One. 2019 Aug 13;14(8):e0216167. doi: 10.1371/journal.pone.0216167. eCollection 2019.
33	Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology.J Cell Biol. 2000 Dec 11;151(6):1321-36. doi: 10.1083/jcb.151.6.1321.
34	Limb-girdle muscular dystrophy 2C: clinical aspects.Neuromuscul Disord. 1996 Dec;6(6):493-4. doi: 10.1016/s0960-8966(96)00395-1.
35	Deletion screening and prenatal diagnosis of Duchenne muscular dystrophy using cDNA probes Cf 23a and Cf 56a.Eur J Pediatr. 1990 Jan;149(4):263-5. doi: 10.1007/BF02106289.
36	Evaluating RANKL and OPG levels in patients with Duchenne muscular dystrophy.Osteoporos Int. 2019 Nov;30(11):2283-2288. doi: 10.1007/s00198-019-05077-5. Epub 2019 Aug 7.
37	Inhibiting TGF- activity improves respiratory function in mdx mice.Am J Pathol. 2011 Jun;178(6):2611-21. doi: 10.1016/j.ajpath.2011.02.024.
38	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
39	Extra-muscle involvement in dystrophinopathies: an electroretinography and evoked potential study.J Neurol Sci. 1997 Mar 10;146(2):127-32. doi: 10.1016/s0022-510x(96)00292-4.
40	Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.Acta Neuropathol Commun. 2017 Sep 15;5(1):72. doi: 10.1186/s40478-017-0474-0.
41	Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children.J Pediatr Endocrinol Metab. 2019 Aug 27;32(8):863-869. doi: 10.1515/jpem-2018-0440.
42	PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.Hum Mol Genet. 2017 Apr 15;26(8):1458-1464. doi: 10.1093/hmg/ddx048.
43	Sarcolipin overexpression impairs myogenic differentiation in Duchenne muscular dystrophy.Am J Physiol Cell Physiol. 2019 Oct 1;317(4):C813-C824. doi: 10.1152/ajpcell.00146.2019. Epub 2019 Jul 31.
44	Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies.Cytogenet Genome Res. 2006;112(1-2):170-5. doi: 10.1159/000087531.
45	Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy.Nat Commun. 2017 Jan 31;8:14143. doi: 10.1038/ncomms14143.
46	Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients.Acta Neuropathol. 2008 Sep;116(3):235-46. doi: 10.1007/s00401-008-0369-z. Epub 2008 Apr 8.
47	The Trithorax protein Ash1L promotes myoblast fusion by activating Cdon expression.Nat Commun. 2018 Nov 28;9(1):5026. doi: 10.1038/s41467-018-07313-8.
48	Assignment of the locus order DXS28-DXS67-DMD as a spin-off from diagnostic DNA marker analysis in a family with Duchenne muscular dystrophy.Clin Genet. 1987 Mar;31(3):192-7. doi: 10.1111/j.1399-0004.1987.tb02794.x.
49	Congenital muscular dystrophies involving the O-mannose pathway.Curr Mol Med. 2007 Jun;7(4):417-25. doi: 10.2174/156652407780831601.
50	Comprehensive genetic characteristics of dystrophinopathies in China.Orphanet J Rare Dis. 2018 Jul 4;13(1):109. doi: 10.1186/s13023-018-0853-z.
51	Importance of monitoring calcium & calcium related properties in carrier detection for Duchenne muscular dystrophy.Indian J Med Res. 1994 Jun;99:283-8.
52	Role of the mitochondrial DNA and calmitine in myopathies.Biochim Biophys Acta. 1995 May 24;1271(1):159-63. doi: 10.1016/0925-4439(95)00023-w.
53	Transgenic overexpression of caveolin-3 in the heart induces a cardiomyopathic phenotype.Hum Mol Genet. 2003 Nov 1;12(21):2777-88. doi: 10.1093/hmg/ddg313. Epub 2003 Sep 9.
54	Skeletal muscle secretome in Duchenne muscular dystrophy: a pivotal anti-inflammatory role of adiponectin.Cell Mol Life Sci. 2017 Jul;74(13):2487-2501. doi: 10.1007/s00018-017-2465-5. Epub 2017 Feb 10.
55	Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.J Biol Chem. 2010 Sep 24;285(39):30304-15. doi: 10.1074/jbc.M110.108720. Epub 2010 Jul 15.
56	Reducing sarcolipin expression mitigates Duchenne muscular dystrophy and associated cardiomyopathy in mice.Nat Commun. 2017 Oct 20;8(1):1068. doi: 10.1038/s41467-017-01146-7.
57	DNAJB2 expression in normal and diseased human and mouse skeletal muscle.Am J Pathol. 2010 Jun;176(6):2901-10. doi: 10.2353/ajpath.2010.090663. Epub 2010 Apr 15.
58	Effects of (-)-epicatechin on frontal cortex DAPC and dysbindin of the mdx mice.Neurosci Lett. 2017 Sep 29;658:142-149. doi: 10.1016/j.neulet.2017.08.056.
59	Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases.Gene. 2007 May 1;392(1-2):142-50. doi: 10.1016/j.gene.2006.11.023. Epub 2007 Jan 11.
60	Major basic protein-1 promotes fibrosis of dystrophic muscle and attenuates the cellular immune response in muscular dystrophy.Hum Mol Genet. 2008 Aug 1;17(15):2280-92. doi: 10.1093/hmg/ddn129. Epub 2008 Apr 21.
61	Gene therapy in Duchenne muscular dystrophy.Brain Dev. 1996 Sep-Oct;18(5):357-61. doi: 10.1016/0387-7604(96)00043-5.
62	Reversible immortalisation enables genetic correction of human muscle progenitors and engineering of next-generation human artificial chromosomes for Duchenne muscular dystrophy.EMBO Mol Med. 2018 Feb;10(2):254-275. doi: 10.15252/emmm.201607284.
63	Does satellite cell dysfunction contribute to disease progression in Emery-Dreifuss muscular dystrophy?.Biochem Soc Trans. 2008 Dec;36(Pt 6):1344-9. doi: 10.1042/BST0361344.
64	Identification of Duchenne muscular dystrophy genomic probe P20 constant Taql fragment corresponding to the EcoRV and Mspl polymorphisms.Prenat Diagn. 1991 Jan;11(1):63-7. doi: 10.1002/pd.1970110112.
65	Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.Proc Natl Acad Sci U S A. 1992 Jan 15;89(2):623-7. doi: 10.1073/pnas.89.2.623.
66	Uniform sarcolemmal dystrophin expression is required to prevent extracellular microRNA release and improve dystrophic pathology.J Cachexia Sarcopenia Muscle. 2020 Apr;11(2):578-593. doi: 10.1002/jcsm.12506. Epub 2019 Dec 17.
67	Augmented synthesis and differential localization of heparan sulfate proteoglycans in Duchenne muscular dystrophy.J Cell Biochem. 2002;85(4):703-13. doi: 10.1002/jcb.10184.
68	Huntingtin-associated protein (HAP1): discrete neuronal localizations in the brain resemble those of neuronal nitric oxide synthase.Proc Natl Acad Sci U S A. 1996 May 14;93(10):4839-44. doi: 10.1073/pnas.93.10.4839.
69	Hemojuvelin is a novel suppressor for Duchenne muscular dystrophy and age-related muscle wasting.J Cachexia Sarcopenia Muscle. 2019 Jun;10(3):557-573. doi: 10.1002/jcsm.12414. Epub 2019 Mar 18.
70	Serum myoglobin in Duchenne muscular dystrophy carrier detection: a comparison with creatine kinase and hemopexin using logistic discrimination.Am J Med Genet. 1984 Jun;18(2):279-87. doi: 10.1002/ajmg.1320180212.
71	Human 7 Integrin Gene (ITGA7) Delivered by Adeno-Associated Virus Extends Survival of Severely Affected Dystrophin/Utrophin-Deficient Mice.Hum Gene Ther. 2015 Oct;26(10):647-56. doi: 10.1089/hum.2015.062. Epub 2015 Aug 11.
72	Krppel-like factor 15: Regulator of BCAA metabolism and circadian protein rhythmicity.Pharmacol Res. 2018 Apr;130:123-126. doi: 10.1016/j.phrs.2017.12.018. Epub 2017 Dec 27.
73	Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD.Hum Mol Genet. 2019 Oct 15;28(20):3369-3390. doi: 10.1093/hmg/ddz180.
74	High urinary ferritin reflects myoglobin iron evacuation in DMD patients.Neuromuscul Disord. 2018 Jul;28(7):564-571. doi: 10.1016/j.nmd.2018.03.008. Epub 2018 Mar 20.
75	Establishment of a Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line carrying a deletion of exons 51-53 of the dystrophin gene (CCMi003-A).Stem Cell Res. 2019 Oct;40:101544. doi: 10.1016/j.scr.2019.101544. Epub 2019 Aug 20.
76	Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride.Sci Rep. 2019 Mar 7;9(1):3807. doi: 10.1038/s41598-019-40421-z.
77	Characterization of pulmonary function in 10-18 year old patients with Duchenne muscular dystrophy.Neuromuscul Disord. 2017 Apr;27(4):307-314. doi: 10.1016/j.nmd.2016.12.014. Epub 2017 Jan 6.
78	Cloning of cDNA encoding a regeneration-associated muscle protease whose expression is attenuated in cell lines derived from Duchenne muscular dystrophy patients.Am J Pathol. 2004 May;164(5):1773-82. doi: 10.1016/S0002-9440(10)63735-2.
79	Expression of Pannexin 1 and Pannexin 3 during skeletal muscle development, regeneration, and Duchenne muscular dystrophy.J Cell Physiol. 2018 Oct;233(10):7057-7070. doi: 10.1002/jcp.26629. Epub 2018 May 10.
80	Human Skeletal Muscle Cells Derived from the Orbicularis Oculi Have Regenerative Capacity for Duchenne Muscular Dystrophy.Int J Mol Sci. 2019 Jul 14;20(14):3456. doi: 10.3390/ijms20143456.
81	Myoglobinemia in Duchenne muscular dystrophy carriers.Brain Dev. 1980;2(1):87-8. doi: 10.1016/s0387-7604(80)80012-x.
82	Repression of phosphatidylinositol transfer protein ameliorates the pathology of Duchenne muscular dystrophy.Proc Natl Acad Sci U S A. 2017 Jun 6;114(23):6080-6085. doi: 10.1073/pnas.1703556114. Epub 2017 May 22.
83	Association Study of Exon Variants in the NF-B and TGF Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.Am J Hum Genet. 2016 Nov 3;99(5):1163-1171. doi: 10.1016/j.ajhg.2016.08.023. Epub 2016 Oct 13.
84	The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.Am J Hum Genet. 2002 Sep;71(3):637-45. doi: 10.1086/342208. Epub 2002 Jul 23.
85	Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family.Mol Genet Genomic Med. 2019 Sep;7(9):e862. doi: 10.1002/mgg3.862. Epub 2019 Jul 25.
86	Scavenger Receptor Class A1 Mediates Uptake of Morpholino Antisense Oligonucleotide into Dystrophic Skeletal Muscle.Mol Ther Nucleic Acids. 2019 Mar 1;14:520-535. doi: 10.1016/j.omtn.2019.01.008. Epub 2019 Jan 25.
87	Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study. Lancet Neurol. 2014 Oct;13(10):987-96.
88	Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients.J Clin Endocrinol Metab. 2001 Nov;86(11):5498-508. doi: 10.1210/jcem.86.11.8058.
89	Differential YAP nuclear signaling in healthy and dystrophic skeletal muscle.Am J Physiol Cell Physiol. 2019 Jul 1;317(1):C48-C57. doi: 10.1152/ajpcell.00432.2018. Epub 2019 Apr 17.
90	Involvement of TRPV2 and SOCE in calcium influx disorder in DMD primary human myotubes with a specific contribution of 1-syntrophin and PLC/PKC in SOCE regulation.Am J Physiol Cell Physiol. 2013 May 1;304(9):C881-94. doi: 10.1152/ajpcell.00182.2012. Epub 2013 Feb 20.
91	SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis.Hum Genet. 2004 Jun;115(1):81-9. doi: 10.1007/s00439-004-1121-y. Epub 2004 Apr 16.
92	Development of a high-throughput screen to identify small molecule enhancers of sarcospan for the treatment of Duchenne muscular dystrophy.Skelet Muscle. 2019 Dec 12;9(1):32. doi: 10.1186/s13395-019-0218-x.
93	LINC complex alterations in DMD and EDMD/CMT fibroblasts.Eur J Cell Biol. 2012 Aug;91(8):614-28. doi: 10.1016/j.ejcb.2012.03.003. Epub 2012 May 1.
94	Dysbindin, syncoilin, and beta-synemin mRNA levels in dystrophic muscles.Int J Neurosci. 2010 Feb;120(2):144-9. doi: 10.3109/00207450903279717.
95	The Direct Cost of Managing a Rare Disease: Assessing Medical and Pharmacy Costs Associated with Duchenne Muscular Dystrophy in the United States.J Manag Care Spec Pharm. 2017 Jun;23(6):633-641. doi: 10.18553/jmcp.2017.23.6.633.
96	Defective Flux of Thrombospondin-4 through the Secretory Pathway Impairs Cardiomyocyte Membrane Stability and Causes Cardiomyopathy.Mol Cell Biol. 2018 Jun 28;38(14):e00114-18. doi: 10.1128/MCB.00114-18. Print 2018 Jul 15.
97	The Role of Matrix Metalloproteinases and Tissue Inhibitors of Metalloproteinases in Duchenne Muscular Dystrophy Cardiomyopathy.J Card Fail. 2019 Apr;25(4):259-267. doi: 10.1016/j.cardfail.2019.02.006. Epub 2019 Feb 11.
98	The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy.Lab Invest. 2016 Aug;96(8):862-71. doi: 10.1038/labinvest.2016.63. Epub 2016 Jun 13.
99	Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor.Cardiovasc Res. 2016 May 15;110(2):178-87. doi: 10.1093/cvr/cvw017. Epub 2016 Jan 19.
100	Titin fragment in urine: A noninvasive biomarker of muscle degradation.Adv Clin Chem. 2019;90:1-23. doi: 10.1016/bs.acc.2019.01.001. Epub 2019 Mar 5.