Table.

Inherited muscle disorders and the potential gene therapy

Disorder	Mutated gene	Inheritance pattern	Protein	Gene therapy drugs* in clinical and preclinical studies
Duchenne muscular dystrophy Becker muscular dystrophy	DMD	XR	Dystrophin	CT:AAVrh74.MHCK7.miDMD NCT03769116 CT:AAV9.CK8e.miDMD, NCT03368742 CT: AAV9.tMCK.miDMD NCT04281485
Danon disease	LAMP2	XR	XR	PCT: AAV9.CAG.LAMP2B [4] CT: NCT03882437
Barth syndrome	TAZ	XR	Tafazzin	PCT: AAV9.Des.TAZ [5]
Myotubular myopathy	MTM1	XR	Myotubularin	PCT: AAV8.DES.hMTM1 [6] CT: NCT03199469
Primary merosin deficiency	LAMA2	AR	Merosin	PCT: AAV9.CB.mini-agrin [7]
Pompe disease	GAA	AR	α-1,4-Glucosidase	PCT: AAV2/8.MHCK7.hGAA [8] CT: AAV2/8.LSP.hGAA NCT03533673 CT: rAAV9.DES.hGAA NCT02240407
Limb-girdle muscular dystrophy LGMD, 2A	CAPN3	AR	Calpain 3	PCT: AAV9.desmin.hCAPN3 [9]
LGMD, 2B	DYSF	AR	Dysferlin	CT: rAAVrh.74.MHCK7.DYSF NCT02710500
LGMD, 2D	SGCA	AR	α-Sarcoglycan	CT: rAAV1.tMCK.hαSG NCT00494195 CT: scAAVrh74.tMCK.hSGCA NCT01976091
LGMD, 2E	SGCB	AR	β-Sarcoglycan	CT:scAAVrh74.MHCK7.hSGCB NCT03652259
LGMD, 2I	FKRP	AR	Fukutinrelated protein	PCT: AAV9.Des.mFkrp [10]
Oculopharyngeal muscular dystrophy	PABPN1	AD	PABPN1	PCT: AAV9.spc512.PABPN1 [11]

^*Drug candidate name includes information about AAV serotype, promoter and transgene.

Note: AD – autosomal dominant; AR – autosomal recessive; XR – X-linked recessive; PCT – preclinical trials; CT – clinical trials.