Disease phenotype	Item in this table	Key references	Gene symbol (chromosome) protein	All allelic disease phenotypes - locus/disease symbols
Duchenne/Becker Muscular Dystrophies - (XR)	1.1	3282674 3285207 3319190 3607877 3614347 3773991	DMD (Xp21.2) dystrophin	Becker muscular distrophy -BMD Cardiomyopathy, Dilated, 3B -CMD3B Cardiomyopathy, dilated, X-linked -XLCM Duchenne muscular dystrophy -DMD
Emery-Dreifuss muscular dystrophy, X-linked , type 1 - (XR)	1.2	3417305 3466853 7894480 8595407 8595433	EMD (Xq28) emerin	Emery-dreifuss muscular dystrophy 1 -EDMD1
Emery-Dreifuss muscular dystrophy, X-linked , type 2 - (XR)	1.3	19716112	FHL1 (Xq26.3) four and a half LIM domain 1	Emery-dreifuss muscular dystrophy 6 -EDMD6 reducing body myopathy - scapuloperoneal myopathy -XPMD x-linked myopathy with postural muscle atrophy -XMPMA
Emery-Dreifuss muscular dystrophy (autosomal dominant) - (AD)	1.4	10080180 10739764	LMNA (1q21.2-q21.3) lamin A/C	Cardiomyopathy, dilated, 1A -CMD1A Charcot-Marie-Tooth disease, axonal, type 2B1 -CMT2B1 Emery-Dreifuss Autosomal recessive -EDMD3 Emery-Dreifuss muscular dystrophy, autosomal dominant -EDMD2 Hutchinson-Gilford progeria syndrome -HGPS Lipodystrophy, familial partial, type 2 -FPLD2 Lipodystrophy, familial partial, type 2 -FPLD2 Mandibuloacral dysplasia with type a lipodystrophy -MADA Muscular dystrophy, limb-girdle, type 1B -LGMD1B restrictive dermopathy - restrictive dermopathy -
Emery-Dreifuss Autosomal recessive - (AR)	1.5	10739764	LMNA (1q21.2-q21.3) lamin A/C	Cardiomyopathy, dilated, 1A -CMD1A Charcot-Marie-Tooth disease, axonal, type 2B1 -CMT2B1 Emery-Dreifuss Autosomal recessive -EDMD3 Emery-Dreifuss muscular dystrophy, autosomal dominant -EDMD2 Hutchinson-Gilford progeria syndrome -HGPS Lipodystrophy, familial partial, type 2 -FPLD2 Lipodystrophy, familial partial, type 2 -FPLD2 Mandibuloacral dysplasia with type a lipodystrophy -MADA Muscular dystrophy, limb-girdle, type 1B -LGMD1B restrictive dermopathy - restrictive dermopathy -
Emery-Dreifuss with nesprin-1 defect - (AD)	1.6	17267447	SYNE1 (6q25) spectrin repeat containing, nuclear envelope 1 (nesprin 1)	cerebellar ataxia, autosomal recessive, type 1 -ARCA1 Emery-dreifuss muscular dystrophy 4 -EDMD4 Spinocerebellar ataxia, autosomal recessive 8 -SCAR8
Emery-Dreifuss with nesprin-2 defect - (AD)	1.7	17267447	SYNE2 (14q23.2) spectrin repeat containing, nuclear envelope 2 (nesprin 2)	Emery-dreifuss muscular dystrophy 5 -EDMD5
Facio-scapulo-humeral muscular dystrophy - (AD)	1.8	12176321 1363881 15674778 16341202 1642238 16632607 1975852 1978143 2037288 7903581 8111371 8268920	? - (4q35)	Muscular dystrophy, facioscapulohumeral -FSHD Muscular dystrophy, facioscapulohumeral, type 1A -FSHD1A
Muscular dystrophy with generalized lipodystrophy - (AR)	1.9	19726876	PTRF (17q21) Polymerase I and transcript release factor (cavin-1)	lipodystrophy, congenital generalize, type 4 -PTRF
Limb-Girdle, Muscular dystrophy, type 1A - (AD)	1.10	10958653 1598902	MYOT (5q31) myotilin	Muscular dystrophy, Limb-Girdle, type 1A -LGMD1A Muscular dystrophy, proximal, type 1A -LGMD1 Myopathy myofibrillar -MFM
Limb-Girdle, Muscular dystrophy, type 1B - (AD)	1.11	10814726 9106535	LMNA (1q21.2-q21.3) lamin A/C	Cardiomyopathy, dilated, 1A -CMD1A Charcot-Marie-Tooth disease, axonal, type 2B1 -CMT2B1 Emery-Dreifuss Autosomal recessive -EDMD3 Emery-Dreifuss muscular dystrophy, autosomal dominant -EDMD2 Hutchinson-Gilford progeria syndrome -HGPS Lipodystrophy, familial partial, type 2 -FPLD2 Lipodystrophy, familial partial, type 2 -FPLD2 Mandibuloacral dysplasia with type a lipodystrophy -MADA Muscular dystrophy, limb-girdle, type 1B -LGMD1B restrictive dermopathy - restrictive dermopathy -
Limb-Girdle, Muscular dystrophy, type 1C - (AD)	1.12	9536092 9537420	CAV3 (3p25) caveolin 3	cardiomyopathy, familial hypertrophic -CMH Creatine phosphokinase, elevated serum -CPK Hyperckemia, idiopathic -CAV3 Muscular dystrophy, limb-girdle, type IC -LGMD1C Rippling muscle disease -RMD2
Limb-Girdle, Muscular dystrophy, type 1D - (AD)	1.13	9973293	? - (7q)	Limb girdle muscular dystrophy 1D (autosomal dominant) -LGMD1D
Limb-Girdle, Muscular dystrophy, type 1E - (AD)	1.14	9382102	? - (6q23)	Cardiomyopathy, dilated, 1F -CMD1F Limb girdle muscular dystrophy 1E (autosomal dominant) -LGMD1E
Limb-Girdle, Muscular dystrophy, type 1F - (AD)	1.15	1291321	LGMD1F (7q32) ?	Muscular dystrophy, Limb-Girdle, Type 1F -LGMD1F
Limb-Girdle, Muscular dystrophy, type 1G - (AD)	1.16	15367920	LGMD1G (4q21) ?	Muscular dystrophy, limb-girdle, type 1G -LGMD1G
Limb-Girdle, Muscular dystrophy, type 2A - (AR)	1.17	1505977 1901754 7720071 9150160	CAPN3 (15q15.1-q21.1) calpain 3	Muscular dystrophy, limb-girdle, type 2A -LGMD2A
Limb-Girdle, Muscular dystrophy, type 2B - (AR)	1.18	8012357 9731526 9731527	DYSF (2p12-14) dysferlin	Miyoshi myopathy -MM Muscular dystrophy, limb-girdle, type 2B -LGMD2B Myopathy, distal, with anterior tibial onset -DMAT
Limb-Girdle, Muscular dystrophy, type 2C - (AR)	1.19	1303286 7481775 8242065 8900232 8968757	SGCG (13q12) gamma sarcoglycan	Muscular dystrophy, limb-girdle, type 2C -LGMD2C
Limb-Girdle, Muscular dystrophy, type 2D - (AR)	1.20	7663524 7668821 8069911 8776597 9192266	SGCA (17q21) alpha sarcoglycan	Adhalinopathy, primary -ADL Muscular dystrophy, limb-girdle, type 2D -LGMD2D
Limb-Girdle, Muscular dystrophy, type 2E - (AR)	1.21	7581448 7581449 8968749	SGCB (4q12) beta sarcoglycan	Muscular dystrophy, limb-girdle, type 2E -LGMD2E
Limb-Girdle, Muscular dystrophy, type 2F - (AR)	1.22	8776597 8841194	SGCD (5q33-q34) delta-sarcoglycan	Cardiomyopathy, dilated, 1L -CMD1L Cardiomyopathy, dilated, 1L -CMD1L Muscular dystrophy, limb-girdle, type 2F -LGMD2F
Limb-Girdle, Muscular dystrophy, type 2G - (AR)	1.23	10655062 9245996	TCAP (17q12) telethonin	Cardiomyopathy, dilated, 1N -CMD1N Muscular dystrophy, limb-girdle, type 2G -LGMD2G
Limb-Girdle, Muscular dystrophy, type 2H - (AR)	1.24	9634523	TRIM32 (9q33.2) Tripartite motif-containing 32	Muscular dystrophy, limb-girdle, type 2H -LGMD2H Sarcotubular myopathy (group 3) -
Limb-Girdle, Muscular dystrophy, type 2I - (AR)	1.25	10838249	FKRP (19q13.33) fukutin-related protein	Muscle-eye-brain disease -MEB Muscular dystrophy, congenital, 1C -MDC1C Muscular dystrophy, limb-girdle, type 2I -LGMD2I Walker-Warburg syndrome -WWS3
Limb-Girdle, Muscular dystrophy, type 2J - (AR)	1.26	12145747	TTN (2q31) titin	Cardiomyopathy, dilated, 1G -CMD1G Cardiomyopathy, familial hypertrophic, 9 -CMH9 Hereditry myopathy with early respiratory failure -HMERF Limb girdle muscular dystrophy 2J (autosomal recessive) -LGMD2J Tibial muscular dystrophy, tardive -TMD
Limb-Girdle, Muscular dystrophy, type 2K - (AR)	1.27	15792865 16717220	POMT1 (9q34.1) Protein-O-mannosyltransferase 1	Muscular dystrophy, Limb-Girdle, type 2K -LGMD2K Walker-Warburg syndrome -WWS
Limb-Girdle, Muscular dystrophy, type 2L - (AR)	1.28	17008331	ANO5 (11p14.3) anoctamin 5	Muscular dystrophy, limb-girdle, type 2L -LGMD2L
Limb-Girdle, Muscular dystrophy, type 2M - (AR)	1.29	17036286 17044012	FKTN (9q31-q33) fukutin	fukuyama congenital muscular dystrophy -FCMD limb-girdle, muscular dystrophy, type 2m -LGMD2M walker-warburg syndrome -WWS
Limb-Girdle, Muscular dystrophy, type 2N - (AR)	1.30	17923109	POMT2 (14q24.3) protein-O-mannosyltransferase 2	limb-girdle, muscular dystrophy, type 2n -LGMD2N Muscle-eye-brain disease -MEB Walker-Warburg syndrome -WWS2
Limb-Girdle, Muscular dystrophy, type 2O - (AR)	1.31	17878207 18195152 19067344	POMGNT1 (1p34.1) O-linked mannose beta1,2-N-acetylglucosaminyltransferase	limb-girdle, muscular dystrophy, type 2o -LGMD2O Muscle-eye-brain disease -MEB Walker-Warburg syndrome -WWS