The 2020 version of the gene table of neuromuscular disorders (nuclear genome)

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disorders (nuclear genome)

Louise Benarroch, Gisèle Bonne, Francois Rivier, Dalil Hamroun

To cite this version:

Louise Benarroch, Gisèle Bonne, Francois Rivier, Dalil Hamroun. The 2020 version of the gene table of

neuromuscular disorders (nuclear genome). Neuromuscular Disorders, Elsevier, 2019, 29 (12), pp.980-

1018. �10.1016/j.nmd.2019.10.010�. �hal-02393145�

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NeuromuscularDisorders29(2019)980–1018

www.elsevier.com/locate/nmd

The 2020 version of the gene table of neuromuscular disorders (nuclear genome)

Louise Benarroch

^a

, Gisèle Bonne

^a^,^∗

, François Rivier

^b

, Dalil Hamroun

^c

aSorbonneUniversité,INSERMUMRS_974,CentredeRechercheenMyologie,InstitutdeMyologie,G.H.Pitié-Salpêtrière,Paris,France

bNeuropédiatrie&CRMaladiesNeuromusculaires,CHUdeMontpellier,U1046INSERM,UMR9214CNRS,Université deMontpellier,France

cCHRUdeMontpellier,DirectiondelaRechercheetdel’Innovation,HôpitalLaColombière,Montpellier,France

General features

ThistableispublishedannuallyintheDecemberissue.Its purposeis toprovidethe reader of NeuromuscularDisorders with an updated list of monogenic neuromuscular diseases due to a primary defect residing in the nuclear genome. It comprises diseases in which the causative gene is known or at least localized on a chromosome, if not yet identified.

Diseases for whichthe locushas not been mapped or which are due to defects involving mitochondrial genes are not included.¹

Asinpastyearsthediseasesare classifiedinto 16groups:

1. Muscular dystrophies;

2. Congenital musculardystrophies;

3. Congenital myopathies;

4. Distalmyopathies;

5. Othermyopathies;

6. Myotonic syndromes;

7. Ion channelmuscle diseases;

8. Malignant hyperthermias;

9. Metabolicmyopathies;

10. Hereditary cardiomyopathies, subdividedinto 10A(non-arrhythmogenic) and

10B(arrhythmogenic);

11. Congenital myasthenic syndromes;

12. SMA & Motor neurone diseases;

13. Hereditary ataxias;

14. Hereditary motor and sensory neuropathies;

15. Hereditary paraplegias;

16. Other neuromuscular disorders.

∗ Correspondingauthor.SorbonneUniversité,INSERMUMRS974,Centre deRechercheenMyologie,Paris,France.Fax:+33142165700.

E-mailaddress:g.bonne@institut-myologie.org(G.Bonne).

1Fordiseasescausedbymitochondrialgenomemutationssee:MITOMAP Ahumanmitochondrialgenomedatabase.Acompendiumofpolymorphisms and mutations ofthe humanmitochondrial DNA http://www.mitomap.org/

MITOMAP.

In each group every entry corresponds to a clinical- genetic entity and has an item number.² A given gene may be involved in several different clinical entities (phenotypic heterogeneity such as in LMNA defects) and conversely a given clinicalentity may be produced by adefect inseveral possible alternative genes (genotypic heterogeneity such as inCMT). In somediseases bothkinds of heterogeneity may occur.Asaconsequence ageneor adisease maybecitedin severalplaces of the table.

The twoversions of the genetable³

The annual printed version below is abridged and does notcontaintheArrhythmogenicHereditaryCardiomyopathies (Group10-B),HereditaryAtaxias(Group13),andHereditary Paraplegias (Group 15). The list of references is restricted to new key references corresponding to the items added or implemented sincethe preceding year.

The fullonline version containsthe completedata of the 16 groups and the cumulative list of key references since 1991.Itisfreelyaccessibleathttp://www.musclegenetable.fr.

It is designed to cope withthe complexity described above.

In this version the data are cross-referenced and linked to PubMed and to major databases related to molecular medicine (Leiden Muscular Dystrophy, OMIM, NCBI, Genatlas, Orphanet, GeneCards). It contains several query tools allowing one to perform a variety of interrogations.

This computerized version of the table is now surpassing the printed version which cannot accommodate the ever increasingvolumeandcomplexityofdata.Thestatisticstool instantlyprovidesthelatestlistofgenes,proteins,phenotypes andcumulativebibliographickey references.Eachlistcanbe displayed, printed andexported inExcel format.

2 Theassigned item number is provisionaland maychange in the next annualversion.

3 Thehistoryanddevelopmentofbothversionsofthetablearepresented inthe2013publication(Kaplan JCandHamroun D.The2013 versionof the gene table of neuromuscular disorders.Neuromuscul Disord. 22 (12), 1108–1135.)

https://doi.org/10.1016/j.nmd.2019.10.010 0960-8966

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the genetable (pages980 to 1018 of this issue)

There are 74 new items, marked by background shading.

Altogether they comprise 36 additional genes out of which one presented allelic phenotype and 38 additional phenotypic variants caused by a gene already listed in the 2019 version (see box). One locus, previously identified, but still without identified gene was missing in the gene table (item#16.20).Finally,onelocuschange causativegene (MED25 >PNKP for CMT2B2, item#14.74).

The newkey referencesof the printedversionof thetable are listed on pages982–1018 inthisissue.

Of note, we implemented the revised nomenclature of LGMD (group 1) proposed by Straub et al. (2018), keeping the previous nomenclature in parallel in order to allow a smoothtransition forusers.ForCMT(group14),we decided not toimplementthe proposedrevisednomenclature (Maguy et al. 2018) in the present released printed version of the genetableofneurousculardisorders,inordertoallowfurther timeforthe neuromuscularcommunity tofullyvalidatethese proposed nomenclatures.

Citation of the gene table

– Printedversion:BenarrochL,BonneG,RivierF,Hamroun D. The 2020 version of the gene table of neuromuscular disorders.Neuromuscul Disord. 29(12),980–1018.

– Online version: GeneTable of Neuromuscular Disorders:

http://www.musclegenetable.fr

Contact

Users of the gene table are kindly requested to send any comments on the printed and/or the online version to g.bonne@institut-myologie.org.

Acknowledgements

We are extremely thankful to Jean-Claude Kaplan for his constanttrustandsupportingivingustheopportunitytotake overthemaintenanceofthe“MuscleGeneTable” heinitiated in1991.We sincerelywish him anenjoyable retirement from the Gene Table, knowing he will keep a kindly eye on it.

We sincerely thank Tanya Stojkovic for her careful review of entriesingroups12and14,VolkerStraubandIchizoNishino for their careful reviewofentries ingroup 1.

We acknowledge the help of Myobase, a bibliographic alert system of the AFM (Asscociation Française contre les Myopathies), URL: http://www.myobase.org/

Weare extremelyappreciative ofthe invaluable assistance provided by Jane Miller at all stages of elaboration and editingof thistable.

This work received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No. 779257 (Solve-RD). L. Benarroch is supported by a MK-UK and Cure-CMD grant (# 18GROI- PG24-0140).

New inthe 2020printed version of the gene table

36 genesadded:

ADCK3(item#16.69) MB(item#5.34) AHNAK2(item#14.33) MAPT(item#12.87) ATP1A2(item#7.5) MET(item#16.23) C1orf194(item#14.19) MGME1(item#16.49) CACNA1H(item#3.55) MPV17(item#14.75) COQ2(item#16.68) MRPS25(item#16.65) COQ4(item#16.72) MSTO1(item#2.49,#16.66) COQ6(item#16.71) MYH14(item#12.86) COQ7(item#16.73) MYL1(item#3.54) COQ9(item#16.70) NOTCH2NLC(item#14.117) COX6A2(item#16.63) NUP88(item#16.28) DNA2(item#16.34) PAX7(item#3.57) ECEL1(item#16.18) SPTAN1(item#12.38) FBXL4(item#16.52) SUCLG1(item#16.48) FDX2(item#16.74) TBK1(item#12.74) FXR1(item#3.56) TIMM22(item#16.67) KIF26B(item#12.85) TOP3A(item#16.39) LRP12(item#5.18) TYMP(item#16.40)

38 additional phenotypic variants caused by mutation in a gene alreadylisted in the gene table

ACTN2(item#3.54) ASCC1(item#16.24)

BICD2(item#12.34anditem#16.22) CAPN3(item#1.16)

COL6A1(item#1.17anditem#1.46) COL6A2(item#1.18anditem#1.47) COL6A3(item#1.19anditem#1.48) DGUOK(item#16.45)

HINT1(item#12.15) HSPB8(item#4.21) KBTBD13(item#1.60) KIF5A(item#12.67) LAMA2(item#1.49) MFN2(item#14.68) MYL2(item#3.19) OPA1(item#16.56)

POLG(item#16.46anditem#16.47) POMGNT2(item#1.50)

PYROXD1(item#1.59anditem#3.60) RRM2B(item#16.48)

RYR1(item#2.50anditem#16.30) SACS(item#14.89)

SCN4A(item#3.59anditem#16.31) SLC25A4(item#16.53anditem#16.54) STAC3(item#3.53)

SYT2(item#12.37) TNPO3(item#3.61) TTN(item#3.32) VRK1(item#12.10)

1 change of causative gene for a previously identified locus

PNKP(item#14.74)

87 newkey references

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NeuromuscularDisorders29(2019)980–1018

www.elsevier.com/locate/nmd

Gene table of monogenic neuromuscular disorders (nuclear genome only)

Vol. 29 No. 12, December 2019

Acomputerized version of the table isfreely accessibleathttp://www.musclegenetable.fr/

Shadedbackgroundindicatesnewlyaddeditems.

DISEASENAME Itemline

inthis group

Inheritance Locusor diseasesymbol andOMIM number

Chromosome Genesymbol andOMIM number

Protein (mitochondrial proteinsindicated bysymbol[M])

Keyreferences Otherallelicdisease(s)(group inthistable)

GROUP1.MUSCULARDYSTROPHIES Duchennemuscular

dystrophy;Beckermuscular dystrophy

1.1 XR DMD

310200 BMD 300376

Xp21.2-p21.1 DMD 300377

Dystrophin Monacoetal.(1986) Burghesetal.(1987) Koenigetal.(1987, 1988)Hoffmanetal.

(1987,1988)

allelictoCMD3B(group10)

Emery-Dreifussmuscular dystrophy,X-linked,type1

1.2 XR EDMD1

310300

Xq28 EMD

300384

Emerin Hodgsonetal.(1986) Romeoetal.(1988) Bioneetal.(1994,1995) Klaucketal.(1995) Nigroetal.(1995) Emery-Dreifussmuscular

dystrophy,X-linked,type2

1.3 XR EDMD6

300696

Xq26.3 FHL1

300163

FourandahalfLIM domain1

Gueneauetal.(2009) allelictoXMPMA(group5), SPM(group5),RBMX1A/B (group5)

Emery-Dreifussmuscular dystrophy,autosomal dominant

1.4 AD EDMD2

181350

1q22 LMNA

150330

LaminA/C Bonneetal.(1999) WormanandBonne (2007)

allelictoEDMD3(group1), formerlyLGMD1B(group1), MDCL(group2),CMD1A (group10),CMT2B1(group14) [+severalotherphenotypesnot inthistable:FPLD2#151660, HGPS#176670,restrictive dermopathy#275210, MADA#248370]

Emery-Dreifussmuscular dystrophy,autosomal recessive

1.5 AR EDMD3

616516

1q22 LMNA

150330

LaminA/C RaffaelediBarlettaetal.

(2000)Wormanand Bonne(2007)

allelictoEDMD2(group1), formerlyLGMD1B(group1), MDCL(group2),CMD1A (group10),CMT2B1(group14) [+severalotherphenotypesnot inthistable:FPLD2#151660, HGPS#176670,restrictive dermopathy#275210, MADA#248370]

Nesprin-1relatedmuscular dystrophy

1.6 AD EDMD4

612998

6q25.2 SYNE1

608441

Spectrinrepeat containing,nuclear envelope1 (nesprin-1)

Zhangetal.(2007) allelictodilatedcardiomyopathy withnesprin-1defect(group 10A),SCAR8(group13),AMC (group16)

Nesprin-2relatedmuscular dystrophy

1.7 AD EDMD5

612999

14q23.2 SYNE2

608442

Spectrinrepeat containing,nuclear envelope2 (nesprin-2)

Zhangetal.(2007)

LUMArelatedmuscular dystrophy

1.8 AD EDMD7

614302

3p25.1 TMEM43

(=LUMA) 612048

Transmembrane protein43(=LUMA)

Liangetal.(2011) allelictoARVD5(group10B)

LAP1Brelatedmuscular dystrophy

1.9 AR MRRSDC

617072

1q25.2 TOR1AIP1

(=LAP1B) 614512

TorsinAinteracting protein1(=Lamin AssociatedPeptide 1B)

Kayman-Kurekcietal.

(2014)Fichtmanetal.

(2019)

(continuedonnextpage)

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DISEASENAME Itemline inthis group

Facio-scapulo-humeral musculardystrophy,type1

1.10 AD FSHD1

158900

4q35 DUX4^∗

606009 (^∗inappropriate reactivation)

Doublehomeobox4 Wijmengaetal.

(1990–1993)Upadhyaya etal.(1990,1992) Wrightetal.(1993)van Deutekometal.(1993) Gabellinietal.(2002) VanderMaareletal.

(2005)Gabellinietal.

(2006)Petrovetal.

(2006)Lemmersetal.

(2010) Facio-scapulo-humeral

musculardystrophy,type2

1.11 AD FSHD2

158901

18p11.32 SMCHD1^∗ 614982 (^∗causing inappropriate reactivationof DUX4^∗ 606009)

Structural maintenanceof chromosomesflexible hingedomain containing1

deGreefetal.(2010) Sacconietal.(2012) Lemmersetal.(2012) Sacconietal.(2013)

allelictoBosmaArhinia MicrophthalmiaSyndrome;

BAMS(#603457)

Musculardystrophywith generalizedlipodystrophy

1.12 AD 17q21.2 CAVIN1

603198

Caveolae-associated protein1,Cavin-1, (PolymeraseIand transcriptrelease factor)

Hayashietal.(2009)

Limbgirdlemusculardystrophies,dominant LGMDD1(formerly

LGDM1E)

1.13 AD LGMDD1

(LGMD1E) 603511

7q36.3 DNAJB6

611332

Hsp40homologue, subfamilyB,number 6

Speeretal.(1999), Sarparantaeal(2012) Harmsetal.(2012)

allelictodistalmyopathy (group4)

LGMDD2(Formerly LGMD1F)

1.14 AD LGMDD2

(LGMD1F) 608423

7q32.1 TNPO3

610032

Transportin3 Palenzuelaetal.(2003) Melià etal.(2013) Torellaetal.(2013)

allelictoCongenitalMyopathy relatedtoTNPO3(group3)

LGMDD3(Formerly LGMD1G)

1.15 AD LGMDD3

(LGMD1G) 609115

4q21.22 HNRNPDL

607137

Heterogeneous nuclear ribonucleoprotein D-like

Starlingetal.(2005) Vieiraetal.(2014)

LGMDD4 1.16 AD LGMDD4

(LGMD1I) 618129

15q15.1 CAPN3

114240

Calpain-3 Vissingetal.(2016) Martinez-Thompson etal.(2018)

allelictoLGMDR1(group1)

(BTHLM1) 158810

21q22.3 COL6A1

120220

CollagentypeVI subunitalpha1

Jöbsisetal.(1996) allelictoUCMDandBTHLM1 (group2)

(BTHLM1) 158810

21q22.3 COL6A2

120240

Jöbsisetal.(1996) allelictoUCMD,BTHLM1 andmyosclerosis(group2)

(BTHLM1) 158810

2q37.3 COL6A3

120250

Speeretal.(1996) Bertinietal.(1998)Pan etal.(1998)

allelictoUCMDand BTHLM1(group2)

Myofibrillarmyopathy3 (FormerlyLGMD1A)

1.20 AD MFM3

609200 (LGMD1A 159,000)

5q31 MYOT

604103

Myotilin(titin immunoglobulin domainprotein)

Speeretal.(1992) Hauseretal.(2000)

allelictodistalmyotilinopathy (group4),MFM(group5), spheroidbodymyopathy(group 5)

Emery-Dreifussmuscular dystrophy2(Formerly LGMD1B)

1.21 AD EDMD2

181350 (LGMD1B 159001)

1q22 LMNA

150330

LaminA/C vanderKooietal.

(1997)Muchiretal.

(2000)Wormanand Bonne(2007)

allelictoEDMD2andEDMD3 (group1),MDCL(group2), CMD1A(group10),CMT2B1 (group14)[+severalother phenotypesnotinthistable:

FPLD2#151660,HGPS#176670, restrictivedermopathy#275210, MADA#248370]

Ripplingmuscledisease2 (FormerlyLGMD1C)

1.22 AD RMD

606072 (LGMD1C 607801)

3p25.3 CAV3

601253

Caveolin-3 Minettietal.(1998) McNallyetal.(1998)

allelictoMPDT(group4),hyper CKemia(group5),RMD2(group 6),CMH(group10A),LQT9 (group10B)

Myofibrillarmyopathy1 (FormerlyLGMD1related toDES)

1.23 AD MFM1

601419

2q35 DES

125660

Desmin Messinaetal.(1997) Greenbergetal.(2012) Hedbergetal.(2012)

allelictoformerlyLGMD2R (group1),MFM1and(group5), CMD1I(group10A),ARVC7 (group5and10B)

LGMD1H 1.24 AD LGMD1H

613530

3p25.1-p23 ? Biscegliaetal.(2010)

Limbgirdlemusculardystrophies,recessive LGMDR1(Formerly

LGMD2A)

1.25 AR LGMDR1

(LGMD2A) 253600

15q15.1 CAPN3

114240

Calpain-3 Beckmannetal.(1991) Youngetal.(1992), Richardetal.(1995, 1997)

allelictoLGMDD4(group1)

LGMDR2(Formerly LGMD2B)

1.26 AR LGMDR2

(LGMD2B) 253601

2p13.2 DYSF

603009

Dysferlin Bashiretal.(1994) Bashiretal.(1998)Liu etal.(1998)

allelictoMMD1(group4)

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LGMDR3(Formerly LGMD2D)

1.27 AR LGMDR3

(LGMD2D) 608099

17q21.33 SGCA

600119

Alpha-sarcoglycan Roberdsetal.(1994) Piccoloetal.(1995) Passos-Buenoetal.

(1995)Ljunggrenetal.

(1995)Carrié etal.

(1997) LGMDR4(Formerly

LGMD2E)

1.28 AR LGMDR4

(LGMD2E) 604286

4q12 SGCB

600900

Beta-sarcoglycan Limetal.(1995) Bönnemannetal.(1995) Bönnemannetal.(1996) LGMDR5(Formerly

LGMD2C)

1.29 AR LGMDR5

(LGMD2C) 253700

13q12.12 SGCG

608896

Gamma-sarcoglycan BenOthmaneetal.

(1992)Azibietal.(1993) Noguchietal.(1995) McNallyetal.(1996) Piccoloetal.(1996) LGMDR6(Formerly

LGMD2F)

1.30 AR LGMDR6

(LGMD2F) 601287

5q33.3-q33.3 SGCD 601411

Delta-sarcoglycan Passos-Buenoetal.

(1996)Nigroetal.

(1996)

allelictoCMD1L(group10A)

LGMDR7(Formerly LGMD2G

1.31 AR LGMDR7

(LGMD2G) 601954

17q12 TCAP

604488

Titin-cap(telethonin) Moreiraetal.(1997) Moreiraetal.(2000)

allelictoCMDrelatedto telethonin(group2),CMH25 (group10A),CMD1N(group 10A)

LGMDR8(Formerly LGMD2H

1.32 AR LGMDR8

(LGMD2H) 254110

9q33.1 TRIM32

602290

Tripartite motif-containing32

Weileretal.(1998) Frosketal.(2002)

allelictosarcotubularmyopathy (group3)

LGMDR9(Formerly LGMD2I

1.33 AR LGMDR9

(MDDGC5) 607155

19q13.32 FKRP

606596

Fukutinrelated protein

Drissetal.(2000) Brockingtonetal.

(2001a)

allelictoMDDGB5/MDC1C (group2),MDDGA5/WWS (group2),MEB(group2) LGMDR10(Formerly

LGMD2J)

1.34 AR LGMDR10

(LGMD2J) 608807

2q31.2 TTN

188840

Titin Hackmanetal.(2003) allelictoCNMrelatedtoTTN (group3),MmDrelatedtoTTN (group3),SALMY(group3), TMD(group4),HMERF(group 5),CMH9(group10),CMD1G (group10)

LGMDR11(Formerly LGMD2K)

1.35 AR LGMDR11

(MDDGC1) 609308

9q34.13 POMT1

607423

Protein0-manno syltransferase1

Balcietal.(2005) D’Amicoetal.(2006)

allelictoWWS/MDDGA1 (group2)

LGMDR12(Formerly LGMD2L)

1.36 AR LGMDR12

(LGMD2L) 611307

11p14.3 ANO5

(TMEM16E) 608662

Anoctamin5 Jarryetal.(2007), Bolducetal.(2008, 2010),Hicksetal.

(2011)

allelictoearlyonsetcalfdistal myopathy(group4)

LGMDR13(Formerly LGMD2M)

1.37 AR LGMDR13

(MDDGC4) 611588

9q31.2 FKTN

607440

Fukutin Murakamietal.(2006) Godfreyetal.(2006)

allelictoFCMD(group2), WWS/MDDGB4(group2), CMD1X(group10) LGMDR14(Formerly

LGMD2N)

1.38 AR LGMDR14

(MDDGC2) 613158

14q24.3 POMT2

607439

ProteinO-mannosyl transferase2

Biancherietal.(2007) allelictoWWS(group2)andto MEB(group2)

LGMDR15(Formerly LGMD2O)

1.39 AR LGMDR15

(MDDGC3) 613157

1p34.1 POMGNT1

606822

ProteinO-linked mannose beta1,2-N-acetyl glucosaminyl transferase1

Godfreyetal.(2007) Clementetal.(2008) Raducuetal.(2012)

allelictoWWS(group2)andto MEB(group2)

LGMDR16(Formerly LGMD2P)

1.40 AR LGMDR16

(MDDGC9) 613818

3p21.31 DAG1

128239

Dystrophin-associated glycoprotein1 (alpha-dystroglycan)

Haraetal.(2011) allelictoMDDGA9(group2)

LGMDR17(Formerly LGMD2Q)

1.41 AR LGMDR17

(LGMD2Q) 613723

8q24.3 PLEC

601282

Plectin Gundeslietal.(2010) allellictoLGMDwith ophthalmoplegia(group1), EBSMD(group5),and Myasthenicsyndromewithplectin defect(group11)

LGMDR18(Formerly LGMD2S)

1.42 AR LGMDR18

(LGMD2S) 615356

4q35.1 TRAPPC11

614138

Traffickingprotein particlecomplex11

Bögershausenetal.

(2013)

allelictoCMDrelatedto TRAPPC11(group2)

LGMDR19(Formerly LGMD2T)

1.43 AR LGMDR19

(MDDGC14) 615352

3p21.31 GMPPB

615320

GDP-mannose pyrophos phorylaseB

Carssetal.(2013) Cabrera-Serranoetal.

(2015)

allelictoMEB/MDDGA14, MDDGB14(group2)and congenitalmyyasthenicsyndrome (group11)

LGMDR20(Formerly LGMD2U)

1.44 AR LGMDR20

(MDDGC7) 616052

7p21.2-p21.1 ISPD 614631

Isoprenoidsynthase domaincontaining protein

Tascaetal.(2013) allelictoWWS/MDDGA7 (group2)

LGMDR21(Formerly LGMD2Z)

1.45 AR LGMDR21

(LGMD2Z) 617232

3q13.33 POGLUT1

615618

ProteinO-Glucosyl transferase1

Servian-Morillaetal.

(2016)

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LGMDR22(Bethlem myopathy1)

1.46 AR LGMDR22

(UCMD1) 254090

21q22.3 COL6A1

120220

Panetal.(2003)Giusti etal.(2005)

allelictocongenital myosclerosis,UCMD1and BTHLM1(group2) LGMDR22(Bethlem

myopathy1)

1.47 AR LGMDR22

(UCMD1) 254090

21q22.3 COL6A2

120240

Jokelaetal.(2019) allelictoUCMD1,BTHLM1 andmyosclerosis(group2)

LGMDR22(Bethlem myopathy1)

1.48 AR LGMDR22

(UCMD1) 254090

2q37.3 COL6A3

120250

Demiretal.(2002) allelictoUCMD1and BTHLM1(group2)

LGMDR23 1.49 AR LGMDR23

618138

6q22.33 LAMA2

156225

Laminin2,Heavy chain(lamininalpha2 chainofmerosin)

Gavassinietal.(2011) allelictoMDC1A(group2)

LGMDR24 1.50 AR LGMDR24

(MDDGC8) 618135

3p22.1 POMGNT2

614828

ProteinO-mannose beta-1,4-N-acetyl glucosaminyl transferase2

Endoetal.(2015) allelictoMDDGA8(group2)

LGMDR25(Formerly LGMD2X)

1.51 AR LGMDR25

(LGMD2X) 616812

6q21 BVES

(=POPDC1) 604577

Bloodvessel epicardialsubstance

Schindleretal.(2016)

Myofibrillarmyopathy1 (FormerlyLGMD2R)

1.52 AR MFM1

601419 (LGMD2R 615325)

2q35 DES

125660

Desmin Cetinetal.(2013) allelictoformerlyLGMD1 relatedtoDES(group1),MFM1 (group5),CMD1I(group10A) andARVC7(group5and10B) Pompedisease(Formerly

LGMD2V)

1.53 AR 17q25.3 GAA

606800

Glucosidasealpha, acid

Preisleretal.(2013) allelictoPompe’sdisease(groups 9and10)

PINCH2-relatedmuscular dystrophy(Formerly LGMD2W)

1.54 AR MDRCMTT

(LGMD2W) 616827

2q14.3 LIMS2

(=PINCH2) 607908

LIMandsenescent cellantigen-like domains2

Chardonetal.(2015)

TOR1AIP1relatedmuscular dystrophy(Formerly LGMD2Y)

1.55 AR MRRSDC

(LGMD2Y) 617072

1q25.2 TOR1AIP1

614512

Torsin1Ainteracting protein1(=lamin associatedprotein1)

Kayman-Kurekcietal.

(2014)Sewryetal.

(2014)Fichtmanetal.

(2019) Muscledystrophywith

glycosylationdefect,typeIo

1.56 AR MDDGC15

(CDG1O) 612937

1q22 DPM3

605951

Dolichyl-phosphate mannosyltransferase polypeptide3

Lefeberetal.(2009)

Scapuloperonealmuscular dystrophyanddroppedhead syndrome

1.57 AR 600416 9p13.3 VCP

601023

Valosin-containing protein

Liewlucketal.(2014) allelictoIBMPFD(groups4and 5),ALS14(group12)and CMT2Y(group14) LGMDwith

ophthalmoplegia

1.58 AR 8q24.3 PLEC

601282

Plectin Fattahietal.(2015) allelictoLGMDR17(group1), EBSMD(group5),myasthenic syndromewithplectindefect (group11)

LGMDrelatedtoPYROXD1 1.59 AR 12p12.1 PYROXD1

617220

Pyridine nucleotide-disulphide oxidoreductase domain1

Sainioetal.(2018) allelictoCongenitalMyopathy relatedtoPYROXD1(group3)

&toMMF8(group5)

LGMDrelatedtoKBTBD13 1.60 AD 15q22.31 KBTBD13

613727

Kelchrepeatand BTB/POZdomain containingprotein13

Garibaldietal.(2018) allelictoNEM6(group3)

GROUP2.CONGENITALMUSCULARDYSTROPHIES

Congenitalmuscular dystrophywithmerosin deficiency

2.1 AR MDC1A

607855

6q22.33 LAMA2

156225

Laminin2,Heavy chain(lamininalpha2 chainofmerosin)

Tomé etal.(1994) Hillaireetal.(1994) Helbling-Leclercetal.

(1995)Allamandetal.

(1997)

allelictoLGMDR23(group1)

Bethlemmyopathy1 2.2 AD BTHLM1

158810

21q22.3 COL6A1

120220

Jöbsisetal.(1996) allelictoLGMDD5(group1and UCMD(group2)

158810

21q22.3 COL6A2

120240

Jöbsisetal.(1996) allelictoLGMDD5(group1)and UCMD,myosclerosis(group2)

158810

2q37.3 COL6A3

120250

Speeretal.(1996) Bertinietal.(1998)Pan etal.(1998)

allelictoLGMDD5(group1and UCMD(group2)

Bethlemmyopathy1 2.5 AR BTHLM1

158810

21q22.3 COL6A2

120240

Gualandietal.(2009) allelictoLGMDR22(group1) andUCMD,myosclerosis (group2)

Ullrichcongenitalmuscular dystrophy1

2.6 AR UCMD1

254090

21q22.3 COL6A1

120220

Collagen,typeVI, subunitalpha1

Panetal.(2003)Giusti etal.(2005)

allelictoLGMDR22(group1) andBTHLM1(group2) Ullrichcongenitalmuscular

dystrophy1

2.7 AR UCMD1

254090

21q22.3 COL6A2

120240

Collagen,typeVI, subunitalpha2

Vanegasetal.(2001) Higuchietal.(2001)

allelictoLGMDR22(group1) andBTHLM1,myosclerosis (group2)

Ullrichcongenitalmuscular dystrophy1

2.8 AR UCMD1

254090

2q37.3 COL6A3

120250

Demiretal.(2002) allelictoLGMDR22(group1) andBTHLM1(group2)