Details of Disease

General Information of Disease (ID: DISQTIJZ)

Disease Name	Neuromuscular disease
Synonyms	nerve and muscle disorder; neuromuscular disease
Disease Class	8C6Y: Myasthenia gravis
Definition	Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions
Disease Hierarchy	DISCFBRD: Neurological disorder DISQTIJZ: Neuromuscular disease
ICD Code	ICD-11 ICD-11: 8C6Y
Disease Identifiers	MONDO ID MONDO_0019056 MESH ID D009468 UMLS CUI C0027868 MedGen ID 10323 Orphanet ID 68381 SNOMED CT ID 255522009

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
Neurox	DMNHHZZ	Approved	NA	[1]
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This Disease is Treated as An Indication in 2 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
CK-2066260	DMT33PP	Investigative	NA	[2]
Human embryonic stem cell-derived motor neuron progenitors	DMEJFA4	Investigative	NA	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 29 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
USP14	TTVSYP9	Limited	Genetic Variation	[3]
CHAT	TTKYFSB	moderate	Genetic Variation	[4]
DAG1	TT4X7PG	moderate	Biomarker	[5]
HSPB8	TTY0OJN	moderate	Genetic Variation	[6]
AR	TTKPW01	Strong	Biomarker	[7]
CACNA1D	TT7RGTM	Strong	Genetic Variation	[8]
DMD	TTWLFXU	Strong	Genetic Variation	[9]
DMPK	TTZQTY2	Strong	Genetic Variation	[10]
DNM2	TTVRA5G	Strong	Genetic Variation	[11]
DYSF	TTA7MXQ	Strong	Genetic Variation	[12]
FST	TTDNM9W	Strong	Biomarker	[13]
GAA	TTLPC70	Strong	Biomarker	[14]
GNE	TT4DP5S	Strong	Biomarker	[15]
MAG	TT9XFON	Strong	Biomarker	[16]
MGAM	TTXWASR	Strong	Altered Expression	[17]
MSTN	TTM8I2X	Strong	Biomarker	[18]
MTM1	TTY2TCU	Strong	Biomarker	[19]
MUSK	TT6SA0X	Strong	Genetic Variation	[20]
MYH2	TTBIL13	Strong	Genetic Variation	[21]
MYH7	TTNIMDP	Strong	CausalMutation	[22]
RIC8A	TTDFTJG	Strong	Biomarker	[23]
SCN4A	TT84DRB	Strong	Genetic Variation	[24]
SGCA	TTS9Q5V	Strong	Genetic Variation	[25]
SGCB	TTEDCQ0	Strong	Genetic Variation	[26]
SGCG	TTSMT9W	Strong	Genetic Variation	[26]
STMN1	TT7W5OT	Strong	Biomarker	[27]
STRAP	TT165DP	Strong	Biomarker	[28]
TRPV4	TTKP2SU	Strong	Genetic Variation	[29]
TRPV4	TTKP2SU	Definitive	Autosomal dominant	[30]
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⏷ Show the Full List of 29 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC7A10	DTVL2JY	Strong	Genetic Variation	[31]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FXN	DEXVHDB	Strong	Biomarker	[32]
SI	DE5EO4Y	Strong	Altered Expression	[17]
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This Disease Is Related to 71 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTA1	OTOVGLPG	Limited	CausalMutation	[33]
EMD	OTR8ZANE	Limited	CausalMutation	[34]
JPH3	OTHTJO2I	Limited	Biomarker	[35]
TPI1	OT14KP4B	Limited	Biomarker	[36]
TTN	OT0LZ058	Limited	Genetic Variation	[37]
MB	OTYWYL2D	moderate	Altered Expression	[38]
POMT1	OTGQSHL5	moderate	Biomarker	[39]
RYR3	OT4EHIP4	moderate	Biomarker	[40]
TNNT1	OT8PBOAR	moderate	Biomarker	[41]
ACSL4	OTI71MUJ	Strong	Biomarker	[42]
ADGRG6	OTY2UBXO	Strong	Biomarker	[43]
BEST1	OTWHE1ZC	Strong	Genetic Variation	[44]
BICD2	OTVJ03NZ	Strong	Biomarker	[45]
CAPN3	OTCHG3YK	Strong	Biomarker	[46]
CHCHD10	OTCDHAM6	Strong	Biomarker	[47]
CHRND	OTLUUP7C	Strong	Genetic Variation	[43]
CLP1	OTPY965Y	Strong	Biomarker	[48]
COL15A1	OTTFKK18	Strong	Biomarker	[49]
COQ2	OTDAKEY4	Strong	Biomarker	[50]
COX3	OTNNGBYJ	Strong	Genetic Variation	[51]
CSRP3	OTECBJMV	Strong	Genetic Variation	[52]
DCTN1	OT5B51FJ	Strong	Biomarker	[53]
DES	OTI09KBW	Strong	Genetic Variation	[54]
DNAJC11	OTYLMZWW	Strong	Biomarker	[55]
DOK7	OTR2V7HO	Strong	Altered Expression	[56]
DTNBP1	OT9UQT2S	Strong	Altered Expression	[57]
ECEL1	OTJ6GNUP	Strong	Biomarker	[58]
EIF3K	OTGTKVGO	Strong	Biomarker	[59]
EPGN	OT3EG75W	Strong	Genetic Variation	[60]
FBXL4	OTZECCIQ	Strong	Genetic Variation	[61]
FKRP	OTMUZ7GH	Strong	Genetic Variation	[25]
FRG1	OTEJ8HSD	Strong	Biomarker	[62]
GFPT1	OTQBDO45	Strong	Genetic Variation	[63]
GOLGA2	OT5S9KYM	Strong	Biomarker	[64]
IMMT	OTBDSLE7	Strong	Genetic Variation	[65]
JSRP1	OT1AAYWO	Strong	Genetic Variation	[66]
KIF1B	OTI1XQTO	Strong	Genetic Variation	[67]
KLC2	OTCTPFA5	Strong	Altered Expression	[68]
KLHL40	OTMPMD6W	Strong	Genetic Variation	[69]
KY	OTK1L8VX	Strong	Genetic Variation	[70]
LAMA2	OTFROQWE	Strong	Biomarker	[71]
LDB3	OTGQL1AM	Strong	CausalMutation	[72]
LIAS	OTOSW67J	Strong	Biomarker	[73]
LMNA	OT3SG7ZR	Strong	Genetic Variation	[74]
LRP4	OTO4M459	Strong	Biomarker	[75]
MACF1	OTVIHD77	Strong	Biomarker	[76]
MAD2L1BP	OT2O2IUJ	Strong	Genetic Variation	[67]
MFN1	OTCBXQZF	Strong	Biomarker	[77]
MICU1	OTS7N0LE	Strong	Genetic Variation	[78]
MSTO1	OT37XCNP	Strong	Genetic Variation	[79]
MYOT	OTCEW5XW	Strong	Genetic Variation	[80]
NAIP	OTLA925F	Strong	Genetic Variation	[81]
NEB	OT7P9IR3	Strong	Genetic Variation	[82]
PABPN1	OT3MC5SE	Strong	Genetic Variation	[83]
PAX7	OTDMQRPO	Strong	Biomarker	[84]
PKD1L2	OTVDFDED	Strong	Altered Expression	[85]
PKP4	OTQHOF8L	Strong	Altered Expression	[86]
PLA1A	OT2IXYNX	Strong	Genetic Variation	[87]
RPL3	OTX6VXLB	Strong	Genetic Variation	[31]
SBF2	OTBB8NO8	Strong	Genetic Variation	[88]
SELENON	OTSGKO5M	Strong	Biomarker	[89]
SMDT1	OTDBR8D1	Strong	Genetic Variation	[90]
SNRPN	OTQB1ID1	Strong	Biomarker	[27]
SPEG	OTQXWJR4	Strong	Biomarker	[43]
SYNC	OTEFLG59	Strong	Altered Expression	[57]
TCAP	OTQQMJ94	Strong	Genetic Variation	[91]
TFG	OT2KJENI	Strong	Genetic Variation	[92]
TRIP4	OTA8OASA	Strong	Genetic Variation	[31]
FLNC	OT3F8J6Y	Definitive	Genetic Variation	[93]
PLEKHG5	OTL0S21W	Definitive	Autosomal recessive	[30]
TRPV4	OTPZKQLX	Definitive	Autosomal dominant	[30]
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⏷ Show the Full List of 71 DOT(s)

References

1	Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
2	The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
3	Genetic background alters the severity and onset of neuromuscular disease caused by the loss of ubiquitin-specific protease 14 (usp14).PLoS One. 2013 Dec 16;8(12):e84042. doi: 10.1371/journal.pone.0084042. eCollection 2013.
4	Chaperone-Mediated Regulation of Choline Acetyltransferase Protein Stability and Activity by HSC/HSP70, HSP90, and p97/VCP.Front Mol Neurosci. 2017 Dec 12;10:415. doi: 10.3389/fnmol.2017.00415. eCollection 2017.
5	Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities.Eur J Hum Genet. 2010 Jul;18(7):852-5. doi: 10.1038/ejhg.2010.28. Epub 2010 Mar 17.
6	Exploring the multifaceted roles of heat shock protein B8 (HSPB8) in diseases.Eur J Cell Biol. 2018 Apr;97(3):216-229. doi: 10.1016/j.ejcb.2018.03.003. Epub 2018 Mar 13.
7	Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy.Sci Rep. 2019 Jan 15;9(1):119. doi: 10.1038/s41598-018-36784-4.
8	Novel genes in primary aldosteronism.Curr Opin Endocrinol Diabetes Obes. 2014 Jun;21(3):154-8. doi: 10.1097/MED.0000000000000060.
9	Recurrent hypotension induced by sacubitril/valsartan in cardiomyopathy secondary to Duchenne muscular dystrophy: A case report.World J Clin Cases. 2019 Dec 6;7(23):4098-4105. doi: 10.12998/wjcc.v7.i23.4098.
10	Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance.Orphanet J Rare Dis. 2019 Feb 13;14(1):42. doi: 10.1186/s13023-019-1019-3.
11	Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish.Hum Mol Genet. 2019 Dec 15;28(24):4186-4196. doi: 10.1093/hmg/ddz260.
12	Involvement of oxidative stress, nuclear factor kappa B and the ubiquitin proteasomal pathway in dysferlinopathy.Life Sci. 2014 Jul 11;108(1):54-61. doi: 10.1016/j.lfs.2014.05.005. Epub 2014 May 17.
13	Follistatin-288-Fc Fusion Protein Promotes Localized Growth of Skeletal Muscle.J Pharmacol Exp Ther. 2019 Mar;368(3):435-445. doi: 10.1124/jpet.118.252304. Epub 2018 Dec 18.
14	Transfer of Therapeutic Genes into Fetal Rhesus Monkeys Using Recombinant Adeno-Associated Type I Viral Vectors.Hum Gene Ther Clin Dev. 2016 Dec;27(4):152-159. doi: 10.1089/humc.2016.119.
15	Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.Muscle Nerve. 2017 Nov;56(5):993-997. doi: 10.1002/mus.25638. Epub 2017 Apr 7.
16	Oxaliplatin-induced neuropathy: the preventive effect of a new super-oxide dismutase modulator.Oncotarget. 2019 Nov 5;10(60):6418-6431. doi: 10.18632/oncotarget.27248. eCollection 2019 Nov 5.
17	Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy.Ann Transl Med. 2019 Jul;7(13):290. doi: 10.21037/atm.2019.05.56.
18	Locally acting ACE-083 increases muscle volume in healthy volunteers.Muscle Nerve. 2018 Jun;57(6):921-926. doi: 10.1002/mus.26113. Epub 2018 Mar 15.
19	Defective membrane remodeling in neuromuscular diseases: insights from animal models.PLoS Genet. 2012;8(4):e1002595. doi: 10.1371/journal.pgen.1002595. Epub 2012 Apr 5.
20	A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.Am J Med Genet A. 2018 Jun;176(6):1405-1410. doi: 10.1002/ajmg.a.38691. Epub 2018 Apr 16.
21	A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies.Neuromuscul Disord. 2013 May;23(5):437-40. doi: 10.1016/j.nmd.2013.02.011. Epub 2013 Mar 13.
22	A rare mutation in MYH7 gene occurs with overlapping phenotype.Biochem Biophys Res Commun. 2015 Feb 13;457(3):262-6. doi: 10.1016/j.bbrc.2014.12.098. Epub 2015 Jan 7.
23	Targeted deletion of RIC8A in mouse neural precursor cells interferes with the development of the brain, eyes, and muscles.Dev Neurobiol. 2018 Apr;78(4):374-390. doi: 10.1002/dneu.22578. Epub 2018 Feb 2.
24	De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure.Neuromuscul Disord. 2019 Nov;29(11):907-909. doi: 10.1016/j.nmd.2019.09.001. Epub 2019 Sep 13.
25	Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.BMC Neurol. 2014 Aug 19;14:154. doi: 10.1186/s12883-014-0154-7.
26	Decorin and biglycan expression is differentially altered in several muscular dystrophies.Brain. 2005 Nov;128(Pt 11):2546-55. doi: 10.1093/brain/awh635. Epub 2005 Sep 23.
27	Mechanisms of exercise-induced survival motor neuron expression in the skeletal muscle of spinal muscular atrophy-like mice.J Physiol. 2019 Sep;597(18):4757-4778. doi: 10.1113/JP278454. Epub 2019 Aug 22.
28	SMN and Gemins: 'we are family' ?or are we?: insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMN.Bioessays. 2010 Dec;32(12):1077-89. doi: 10.1002/bies.201000088. Epub 2010 Oct 15.
29	The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.Muscle Nerve. 2019 Jan;59(1):129-133. doi: 10.1002/mus.26346. Epub 2018 Oct 26.
30	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.
31	The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement.Clin Genet. 2017 Oct;92(4):434-439. doi: 10.1111/cge.12997. Epub 2017 Mar 31.
32	Impact of diabetes in the Friedreich ataxia clinical outcome measures study.Ann Clin Transl Neurol. 2017 Jul 26;4(9):622-631. doi: 10.1002/acn3.439. eCollection 2017 Sep.
33	Structure of the F-actin-tropomyosin complex.Nature. 2015 Mar 5;519(7541):114-7. doi: 10.1038/nature14033. Epub 2014 Dec 1.
34	Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred.Eur J Neurol. 2007 Mar;14(3):305-8. doi: 10.1111/j.1468-1331.2006.01657.x.
35	Evaluating noncoding nucleotide repeat expansions in amyotrophic lateral sclerosis.Neurobiol Aging. 2014 Apr;35(4):936.e1-4. doi: 10.1016/j.neurobiolaging.2013.09.024. Epub 2013 Oct 23.
36	Human triosephosphate isomerase deficiency resulting from mutation of Phe-240.Am J Hum Genet. 1993 Jun;52(6):1260-9.
37	Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement.Neuromuscul Disord. 2017 Feb;27(2):188-192. doi: 10.1016/j.nmd.2016.11.002. Epub 2016 Nov 11.
38	Expression of myoglobin gene in skeletal muscle of patients with neuromuscular diseases.Muscle Nerve. 1994 Jul;17(7):720-4. doi: 10.1002/mus.880170703.
39	Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.Neuropediatrics. 2020 Feb;51(1):72-75. doi: 10.1055/s-0039-1695787. Epub 2019 Oct 18.
40	The genomic and clinical landscape of fetal akinesia.Genet Med. 2020 Mar;22(3):511-523. doi: 10.1038/s41436-019-0680-1. Epub 2019 Nov 4.
41	TNNT1, negatively regulated by miR-873, promotes the progression of colorectal cancer.J Gene Med. 2020 Feb;22(2):e3152. doi: 10.1002/jgm.3152. Epub 2019 Dec 23.
42	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.
43	Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.Orphanet J Rare Dis. 2015 Nov 17;10:148. doi: 10.1186/s13023-015-0364-0.
44	Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.PLoS One. 2018 May 30;13(5):e0197205. doi: 10.1371/journal.pone.0197205. eCollection 2018.
45	Neuronal Roles of the Bicaudal D Family of Motor Adaptors.Vitam Horm. 2017;104:133-152. doi: 10.1016/bs.vh.2016.11.005. Epub 2016 Dec 29.
46	Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A.Sci Transl Med. 2019 Nov 27;11(520):eaat6072. doi: 10.1126/scitranslmed.aat6072.
47	Loss of mitochondrial protein CHCHD10 in skeletal muscle causes neuromuscular junction impairment.Hum Mol Genet. 2020 Jul 21;29(11):1784-1796. doi: 10.1093/hmg/ddz154.
48	Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24;157(3):636-50. doi: 10.1016/j.cell.2014.02.058.
49	Slow Muscle Precursors Lay Down a Collagen XV Matrix Fingerprint to Guide Motor Axon Navigation.J Neurosci. 2016 Mar 2;36(9):2663-76. doi: 10.1523/JNEUROSCI.2847-15.2016.
50	Iatrogenic myopathies.Curr Opin Neurol. 2010 Oct;23(5):445-9. doi: 10.1097/WCO.0b013e32833c2054.
51	Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis.J Clin Neurosci. 2011 Feb;18(2):290-2. doi: 10.1016/j.jocn.2010.06.001. Epub 2010 Dec 15.
52	Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation.FEBS J. 2014 Jul;281(14):3261-79. doi: 10.1111/febs.12859. Epub 2014 Jun 11.
53	Mouse p150Glued (dynactin 1) cDNA sequence and evaluation as a candidate for the neuromuscular disease mutation mnd2.Biochem Biophys Res Commun. 1997 Feb 13;231(2):344-7. doi: 10.1006/bbrc.1997.6095.
54	Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.BMC Med Genet. 2013 Jul 2;14:68. doi: 10.1186/1471-2350-14-68.
55	Mapping Interactome Networks of DNAJC11, a Novel Mitochondrial Protein Causing Neuromuscular Pathology in Mice.J Proteome Res. 2019 Nov 1;18(11):3896-3912. doi: 10.1021/acs.jproteome.9b00338. Epub 2019 Oct 7.
56	Overexpression of Dok-7 in skeletal muscle enhances neuromuscular transmission with structural alterations of neuromuscular junctions: Implications in robustness of neuromuscular transmission.Biochem Biophys Res Commun. 2020 Feb 26;523(1):214-219. doi: 10.1016/j.bbrc.2019.12.011. Epub 2019 Dec 14.
57	Dysbindin, syncoilin, and beta-synemin mRNA levels in dystrophic muscles.Int J Neurosci. 2010 Feb;120(2):144-9. doi: 10.3109/00207450903279717.
58	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.
59	Muscle specific kinase protects dystrophic mdx mouse muscles from eccentric contraction-induced loss of force-producing capacity.J Physiol. 2019 Sep;597(18):4831-4850. doi: 10.1113/JP277839. Epub 2019 Aug 18.
60	Vici syndrome: a review.Orphanet J Rare Dis. 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x.
61	Whole exome sequencing of suspected mitochondrial patients in clinical practice.J Inherit Metab Dis. 2015 May;38(3):437-43. doi: 10.1007/s10545-015-9823-y. Epub 2015 Mar 4.
62	FRG1P-mediated aggregation of proteins involved in pre-mRNA processing.Chromosoma. 2007 Feb;116(1):53-64. doi: 10.1007/s00412-006-0083-3. Epub 2006 Nov 14.
63	A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.Hum Mol Genet. 2015 Jun 15;24(12):3418-26. doi: 10.1093/hmg/ddv090. Epub 2015 Mar 12.
64	Golga5 is dispensable for mouse embryonic development and postnatal survival.Genesis. 2017 Jul;55(7):10.1002/dvg.23039. doi: 10.1002/dvg.23039. Epub 2017 Jun 2.
65	Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish.Cells. 2019 Aug 7;8(8):848. doi: 10.3390/cells8080848.
66	JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor.Hum Mutat. 2013 Jan;34(1):184-90. doi: 10.1002/humu.22209. Epub 2012 Oct 11.
67	Expanding the spectrum of genes responsible for hereditary motor neuropathies.J Neurol Neurosurg Psychiatry. 2019 Oct;90(10):1171-1179. doi: 10.1136/jnnp-2019-320717. Epub 2019 Jun 5.
68	Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Hum Mol Genet. 2015 Dec 15;24(24):6877-85. doi: 10.1093/hmg/ddv388. Epub 2015 Sep 18.
69	Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.Prenat Diagn. 2016 Dec;36(12):1135-1138. doi: 10.1002/pd.4949. Epub 2016 Nov 18.
70	A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.Eur J Hum Genet. 2016 Dec;24(12):1771-1777. doi: 10.1038/ejhg.2016.98. Epub 2016 Aug 3.
71	Muscle-specific BCL2 expression ameliorates muscle disease in laminin {alpha}2-deficient, but not in dystrophin-deficient, mice.Hum Mol Genet. 2005 Apr 15;14(8):1029-40. doi: 10.1093/hmg/ddi095. Epub 2005 Mar 9.
72	Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin.Biochemistry. 2017 Apr 11;56(14):2061-2070. doi: 10.1021/acs.biochem.7b00067. Epub 2017 Apr 3.
73	LAS: Sizing of expanded trinucleotide repeats with femtomolar sensitivity in less than 5minutes.Sci Rep. 2019 Jan 10;9(1):23. doi: 10.1038/s41598-018-36632-5.
74	Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.Circ Cardiovasc Genet. 2017 Aug;10(4):e001763. doi: 10.1161/CIRCGENETICS.117.001763.
75	Agrin-LRP4-MuSK signaling as a therapeutic target for myasthenia gravis and other neuromuscular disorders.Expert Opin Ther Targets. 2017 Oct;21(10):949-958. doi: 10.1080/14728222.2017.1369960. Epub 2017 Aug 24.
76	The role of MACF1 in nervous system development and maintenance.Semin Cell Dev Biol. 2017 Sep;69:9-17. doi: 10.1016/j.semcdb.2017.05.020. Epub 2017 Jun 1.
77	MFN1 structures reveal nucleotide-triggered dimerization critical for mitochondrial fusion.Nature. 2017 Feb 16;542(7641):372-376. doi: 10.1038/nature21077. Epub 2017 Jan 23.
78	Dysregulation of Mitochondrial Ca(2+) Uptake and Sarcolemma Repair Underlie Muscle Weakness and Wasting in Patients and Mice Lacking MICU1.Cell Rep. 2019 Oct 29;29(5):1274-1286.e6. doi: 10.1016/j.celrep.2019.09.063.
79	Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6.
80	Maintenance of muscle mass, fiber size, and contractile function in mice lacking the Z-disc protein myotilin.Ups J Med Sci. 2009;114(4):235-41. doi: 10.3109/03009730903276399.
81	Deletion analysis of spinal muscular atrophy in southern Indian population.Neurol India. 2008 Jul-Sep;56(3):348-51. doi: 10.4103/0028-3886.43454.
82	Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.J Med Genet. 2013 Jun;50(6):383-92. doi: 10.1136/jmedgenet-2012-101470. Epub 2013 Apr 9.
83	Mutation and haplotype analysis of oculopharyngeal muscular dystrophy in Thai patients.J Clin Neurosci. 2011 May;18(5):674-7. doi: 10.1016/j.jocn.2010.08.020.
84	Characterization of the alternate allelic forms of human PAX7.Mamm Genome. 2000 Apr;11(4):332-7. doi: 10.1007/s003350010061.
85	Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse.Hum Mol Genet. 2009 Oct 1;18(19):3553-66. doi: 10.1093/hmg/ddp304. Epub 2009 Jul 4.
86	p0071, a member of the armadillo multigene family, is a constituent of sarcomeric I-bands in human skeletal muscle.J Muscle Res Cell Motil. 2000;21(6):577-86. doi: 10.1023/a:1026587530656.
87	Next generation sequencing for molecular diagnosis of neuromuscular diseases.Acta Neuropathol. 2012 Aug;124(2):273-83. doi: 10.1007/s00401-012-0982-8. Epub 2012 Apr 18.
88	Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.Genomics Proteomics Bioinformatics. 2014 Oct;12(5):221-7. doi: 10.1016/j.gpb.2014.09.003. Epub 2014 Oct 28.
89	Selenoprotein function and muscle disease.Biochim Biophys Acta. 2009 Nov;1790(11):1569-74. doi: 10.1016/j.bbagen.2009.03.002. Epub 2009 Mar 11.
90	Proteolytic control of the mitochondrial calcium uniporter complex.Proc Natl Acad Sci U S A. 2017 Apr 25;114(17):4388-4393. doi: 10.1073/pnas.1702938114. Epub 2017 Apr 10.
91	Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions.Neuromuscul Disord. 2016 Nov;26(11):749-753. doi: 10.1016/j.nmd.2016.07.003. Epub 2016 Jul 16.
92	HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry.Neurobiol Aging. 2015 Mar;36(3):1606.e1-7. doi: 10.1016/j.neurobiolaging.2014.11.021. Epub 2014 Dec 16.
93	De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy.Hum Mutat. 2018 Sep;39(9):1161-1172. doi: 10.1002/humu.23559. Epub 2018 Jun 17.