Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

MACF1
Microtubule-actin cross-linking factor 1



1p34.3
* Spectraplakinopathy - (16.79)

MAG
Myelin associated glycoprotein



19q13.12
* Spastic paraplegia 75, autosomal recessive - SPG75 (15.63)

MAP3K20
Mitogen-activated protein kinase kinase 20



2q31.1
* Centronuclear myopathy 6 with fiber-type disproportion - CNM6 (3.20)

MAPT
Microtubule associated protein Tau



17q21.31
* Lower motor neuron disease with respiratory failure related to MAPT - (12.97)

MARS
Methionyl-tRNA synthetase



12q13.3
* Charcot-Marie-Tooth 2 - (14.62)

MARS2
Methionyl-tRNA synthetase 2, mitochondrial(M)



2q33-34
* autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL (15.78)

MATR3
Matrin 3



5q31
* Vocal cord and pharyngeal distal myopathy - VCPDM (4.5, 12.64)
* Familial amyotrophic lateral sclerosis - ALS21 (4.5, 12.64)

MB
Myoglobin



22q12.3
* Myopathy with characteristic sarcoplasmic inclusions - (5.36)

MCM3AP
Minichromosome maintenance 3-associated protein



21q22.3
* Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development - PNRIID (12.98)

MEGF10
Multiple EGF-like-domains 10



5q23.2
* Recessive congenital myopathy with minicores - (3.33, 3.34)
* Early onset myopathy, areflexia, respiratory distress and dysphagia - EMARDD (3.33, 3.34)

MET
MET protooncogene



7q31.2
* Arthrogryposis and muscular dysplasia - (16.23)

MFN2
Mitofusin 2(M)



1p36.22
* Hereditary motor and sensory neuropathy 2A - CMT2A2A (14.47, 14.70, 14.75)
* Charcot-Marie-Tooth disease, axonal, type 2A2B - CMT2A2B (14.47, 14.70, 14.75)
* Hereditary motor and sensory neuropathy, type VIA with optic atrophy - HMSN6A (14.47, 14.70, 14.75)

MGME1
Mitochondrial genome maintenance exonuclease 1(M)



20p11.23
* Mitochondrial DNA depletion syndrome 11 - MTDPS11 (16.53)

MIB1
Mindbomb homolog 1 (drosophila)



18q11.2
* Left ventricular noncompaction 7 - LVNC7 (10.98)

MME
Membrane metallo-endopeptidase



3q25.2
* Charcot-Marie-Tooth neuropathy Type 2T - CMT2T (13.39, 14.87)
* Spinocerebellar Ataxia, type 43 - SCA43 (13.39, 14.87)

MORC2
MORC family CW-type zinc finger 2



2q12.2
* Charcot-Marie-Tooth neuropathy Type 2Z - CMT2Z (14.66)

MPDU1
Mannose-P-dolichol utilization defect 1



17p13.1
* Congenital disorder of glycosylation type 1 - CDG1F (2.36)

MPV17
MpV17 mitochondrial inner membrane protein(M)



2p23.3
* Charcot-Marie-Tooth disease, axonal, type 2EE - CMT2EE (14.78)

MPZ
Myelin protein zero



1q22
* Charcot-Marie-Tooth disease, type 2I - CMT2I (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)
* Charcot-Marie-Tooth disease, type 2J - CMT2J (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)
* Charcot-Marie-Tooth disease, type 1B - CMT1B (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)
* Neuropathy, congenital hypomyelinating - CMT4E (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)
* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)
* Dejerine-Sottas syndrome - DSSA (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)

MRE11A
MRE11 meiotic recombination 11 homolog A



11q21
* ataxia telangiectasia-like disorder - ATLD (13.88)

MRPL3
Mitochondrial ribosomal protein L3(M)



3q21-q23
* Hypertrophic mitochondrial cardiomyopathy related to MRPL3 - (10.32)

MRPL44
Mitochondrial ribosomal protein L44(M)



2q36.1
* Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16 (10.34)

MRPS25
Mitochondrial ribosomal protein S25(M)



3p25.1
* Dyskinetic cerebral palsy, partial agenesis of the corpus callosum and mitochondrial myopathy - (16.69)

MSTN
Myostatin



2q32.2
* Muscle hypertrophy - MSLHP (5.22)

MSTO1
Misato homolog 1 (Drosophila)(M)



1q22
* Myopathy, mitochondrial and cerebellar ataxia - MMYAT (2.52, 13.94, 16.70)

MTM1
Myotubularin



Xq28
* Myotubular myopathy, X-linked - MTM1 (3.21)

MTMR2
Myotubularin-related protein 2



11q22
* Charcot-Marie-Tooth disease, type 4B1 - CMT4B1 (14.22)

MTO1
Mitochondrial tRNA translation optimization 1(M)



6q13
* Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10 (10.33)

MTPAP
Mitochondrial poly(A) polymerase(M)



10p12.1
* Spastic ataxia 4 autosomal recessive - SPAX4 (15.79)

MURC
Muscle-related coiled-coil protein



9q31.1
* Dilated cardiomyopathy related to MURC - (10.83)

MUSK
Muscle, skeletal, receptor tyrosine kinase



9q31.3-q32
* Congenital myasthenic syndrome related to MuSK - CMS1B (11.15, 16.26)
* Fetal akinesia deformation sequance with MUSK defect - FADS1 (11.15, 16.26)

MYBPC1
Myosin-binding proteinC, slow type



12q23.2
* Arthrogryposis, distal, type 1B - DA1B (12.79, 16.10)
* Lethal Congenital Contracture Syndrome 4 - LCCS4 (12.79, 16.10)

MYBPC3
Cardiac myosin binding protein-C



11p11.2
* Cardimyopathy, dilated, 1A - CMD1A (3.44, 10.4, 10.101, 10.74)
* Dilated cardiomyopathy related to MYBPC3 - (3.44, 10.4, 10.101, 10.74)
* congenital skeletal myopathy and fatal cardiomyopathy - (3.44, 10.4, 10.101, 10.74)
* Left ventricular noncompaction 10 - LVNC10 (3.44, 10.4, 10.101, 10.74)
* Cardiomyopathy, familial hypertrophic, 4 - CMH4 (3.44, 10.4, 10.101, 10.74)

MYH14
Myosin, heavy chain 14, non muscle



19q13.33
* Peripheral neuropathy, myopathy, hoarseness and hearing loss - PNMHH (12.96)

MYH2
Myosin, heavy polypeptide 2, skeletal muscle



17p13.1
* Myopathy congenital, with fiber-type disproportion - CFTD (3.37)
* Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) - MYPOP (3.37)
* Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3 (3.37)

MYH3
Myosine, heavy chain 3, skeletal muscle, embryonic



17p13
* Arthrogryposis, distal, type 2A - DA2A (16.11, 16.14)
* Arthrogryposis, distal, type 2B - DA2B (16.11, 16.14)

MYH6
Myosin heavy chain 6



14q12
* Cardiomyopathy, dilated, 1EE - CMD1EE (10.1, 10.13, 10.175, 10.66)
* Familial hypertrophic cardiomyopathy, 14 - CMH14 (10.1, 10.13, 10.175, 10.66)
* Sick sinus syndrome 3 - SSS3 (10.1, 10.13, 10.175, 10.66)
* Cardiomyopathy, familial hypertrophic 1 - CMH1 (10.1, 10.13, 10.175, 10.66)

MYH7
Myosin, heavy polypeptide 7, cardiac muscle, beta



14q12
* Cardiomyopathy, dilated, 1S - CMD1S (3.18, 3.35, 3.36, 3.62, 4.4, 10.1, 10.54, 10.96)
* Myopathy, distal 1 - MPD1 (3.18, 3.35, 3.36, 3.62, 4.4, 10.1, 10.54, 10.96)
* cardiomyopathy, familial hypertrophic, 1, included - CMH1 (3.18, 3.35, 3.36, 3.62, 4.4, 10.1, 10.54, 10.96)
* Left ventricular noncompaction 5 - LVNC5 (3.18, 3.35, 3.36, 3.62, 4.4, 10.1, 10.54, 10.96)
* Myosin storage myopathy - (3.18, 3.35, 3.36, 3.62, 4.4, 10.1, 10.54, 10.96)

MYH8
Myosin heavy chain, 8, skeletal muscle, perinatal



17p13
* Myosin, heavy chain, perinatal - MYH8 (16.19)

MYL1
Myosin, light polypeptide 1, alkali, skeletal fast



2q34
* Myopathy congenital with fast twitch (type II) fiber atrophy - MYOFTA (3.55)

MYL2
Myosin light chain 2



12q23-q24.3
* myopathy, congenital, with fiber-type disproportion - CFTD (3.19, 10.9)
* Cardiomyopathy, familial hypertrophic, 10 - CMH10 (3.19, 10.9)
* Cardiomyopathy, hypertrophic, 10 - CMH10 (3.19, 10.9)

MYL3
Myosin light chain 3



3p21.3-p21.2
* Cardiomopathy, hypertrophic, mid-ventricular chamber type - MYL3 (10.7)

MYL4
Myosin, Light Chain 4, Alkali, Atrial, Embryonic



17q21.32
* ATFB18 - Atrial fibrillation (10.162)

MYLK2
Myosin light chain kinase 2



20q13.31
* cardiomyopathy, familial hypertrophic - CMH (10.15)

MYMK
Myomaker



9q34.2
* Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) - CFZS (3.51)

MYO18B
Myosin XVIIIB



22q12.1
* Nemaline Myopathy with Cardiomyopathy - (3.12)
* Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism - KFS4 (3.12)

MYO9A
Myosin IXA



15q23
* Presynaptic congenital myasthenic syndrome 24 - CMS24 (11.30)

MYOT
Myotilin



5q31
* Myofibrillar myopathy, myotilin related - MFM3 (1.20, 4.10, 5.3, 5.4)
* Spheroid body myopathy - (1.20, 4.10, 5.3, 5.4, 5.4)
* Left ventricular hypertrabeculation/non compaction - (1.20, 4.10, 5.3, 5.4, 5.4)
* Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A (1.20, 4.10, 5.3, 5.4, 5.4)

MYOZ2
Myozenin 2, or calsarcin 1, a Z disk protein



4q26
* Hypertrophic cardiomyopathy related to myozenin 2 - (10.17)
* Cardiomyopathy, familial hypertrophic, 16 - CMH16 - CMH16 (10.17)

MYPN
Myopalladin



10q21.1
* Hypertrophic cardiomyopathy related to cardiac myopalladin - CMH22 (3.11, 10.23, 10.72, 10.88)
* Nemaline myopathy - NEM11 (3.11, 10.23, 10.72, 10.88)
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