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 - (16.81)

MAG
Myelin associated glycoprotein



19q13.12
* Spastic paraplegia 75, autosomal recessive - SPG75 (15.68)

MAP3K20
Mitogen-activated protein kinase kinase 20



2q31.1
* Centronuclear myopathy 6 with fiber-type disproportion - CNM6 (3.23)

MAPT
Microtubule associated protein Tau



17q21.31
* Lower motor neuron disease with respiratory failure related to MAPT - (12.108)

MARS1
Methionyl-tRNA synthetase



12q13.3
* Charcot-Marie-Tooth neuropathy Type 2U - CMT2U (14.70, 15.65)
* Spastic paraplegia 70, autosomal recessive - SPG70 (14.70, 15.65)

MARS2
Methionyl-tRNA synthetase 2, mitochondrial(M)



2q33-34
* autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL (15.90)

MATR3
Matrin 3



5q31
* Vocal cord and pharyngeal distal myopathy - VCPDM (4.13, 12.72)
* Familial amyotrophic lateral sclerosis - ALS21 (4.13, 12.72)

MB
Myoglobin



22q12.3
* Myopathy with characteristic sarcoplasmic inclusions - (5.43)

MCM3AP
Minichromosome maintenance 3-associated protein



21q22.3
* Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development - PNRIID (12.109, 14.102)
* Charcot-Marie-Tooth disease, axonal - (12.109, 14.102)

MCOLN1
Mucopilin 1



19p13.2
* Lysosomal storage myopathy - ML4 (5.45)

MEGF10
Multiple EGF-like-domains 10



5q23.2
* Congenital myopathy 10A, severe variant - CMYP10A (3.37, 3.38)
* Congenital myopathy 10B, mild variant - CMYP10B (3.37, 3.38)

MET
MET protooncogene



7q31.2
* Arthrogryposis, distal type 11 - DA11 (16.21)

MFN2
Mitofusin 2(M)



1p36.22
* Hereditary motor and sensory neuropathy 2A - CMT2A2A (14.55, 14.79, 14.87)
* Charcot-Marie-Tooth disease, axonal, type 2A2B - CMT2A2B (14.55, 14.79, 14.87)
* Hereditary motor and sensory neuropathy, type VIA with optic atrophy - HMSN6A (14.55, 14.79, 14.87)

MGME1
Mitochondrial genome maintenance exonuclease 1(M)



20p11.23
* Mitochondrial DNA depletion syndrome 11 - MTDPS11 (16.54)

MIB1
Mindbomb homolog 1 (drosophila)



18q11.2
* Left ventricular noncompaction 7 - LVNC7 (10.110)

MICU1
Mitochondrial Calcium Uptake Protein 1



10q22.1
* Myopathy with extrapyramidal signs - MPXPS (5.47)

MLIP
Muscular LMNA-interacting protein



6p12.1
* Myopathy with myalgia, increased serum creatine kinase and with or without episodic rhabdomyolysis - MMCKR (5.49)

MME
Membrane metallo-endopeptidase



3q25.2
* Charcot-Marie-Tooth neuropathy Type 2T - CMT2T (13.40, 14.95)
* Spinocerebellar Ataxia, type 43 - SCA43 (13.40, 14.95)

MORC2
MORC family CW-type zinc finger 2



2q12.2
* Charcot-Marie-Tooth neuropathy Type 2Z - CMT2Z (14.74)

MPDU1
Mannose-P-dolichol utilization defect 1



17p13.1
* Congenital disorder of glycosylation type 1 - CDG1F (2.42)

MPV17
MpV17 mitochondrial inner membrane protein(M)



2p23.3
* Charcot-Marie-Tooth disease, axonal, type 2EE - CMT2EE (14.90)

MPZ
Myelin protein zero



1q22
* Charcot-Marie-Tooth disease, type 2I - CMT2I (14.2, 14.18, 14.35, 14.51, 14.62, 14.63)
* Charcot-Marie-Tooth disease, type 2J - CMT2J (14.2, 14.18, 14.35, 14.51, 14.62, 14.63)
* Charcot-Marie-Tooth disease, type 1B - CMT1B (14.2, 14.18, 14.35, 14.51, 14.62, 14.63)
* Neuropathy, congenital hypomyelinating, 2 - CHN2 (14.2, 14.18, 14.35, 14.51, 14.62, 14.63)
* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID (14.2, 14.18, 14.35, 14.51, 14.62, 14.63)
* Dejerine-Sottas syndrome - DSSA (14.2, 14.18, 14.35, 14.51, 14.62, 14.63)

MRE11A
MRE11 meiotic recombination 11 homolog A



11q21
* ataxia telangiectasia-like disorder - ATLD (13.100)

MRPL3
Mitochondrial ribosomal protein L3(M)



3q21-q23
* Hypertrophic mitochondrial cardiomyopathy related to MRPL3 - (10.35)

MRPL44
Mitochondrial ribosomal protein L44(M)



2q36.1
* Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16 (10.37)

MRPS25
Mitochondrial ribosomal protein S25(M)



3p25.1
* Combined oxidative phosphorylation deficiency 50 - COXPD50 (16.69)

MSTN
Myostatin



2q32.2
* Muscle hypertrophy - MSLHP (5.28)

MSTO1
Misato homolog 1 (Drosophila)(M)



1q22
* Myopathy, mitochondrial and cerebellar ataxia - MMYAT (2.49, 13.106, 16.73)

MTM1
Myotubularin



Xq28
* Myotubular myopathy, X-linked - MTM1 (3.18)

MTMR2
Myotubularin-related protein 2



11q22
* Charcot-Marie-Tooth disease, type 4B1 - CMT4B1 (14.29)

MTO1
Mitochondrial tRNA translation optimization 1(M)



6q13
* Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10 (10.36)

MTPAP
Mitochondrial poly(A) polymerase(M)



10p12.1
* Spastic ataxia 4 autosomal recessive - SPAX4 (15.91)

MURC
Muscle-related coiled-coil protein



9q31.1
* Dilated cardiomyopathy related to MURC - (10.94)

MUSK
Muscle, skeletal, receptor tyrosine kinase



9q31.3-q32
* Congenital myasthenic syndrome related to MuSK - CMS1B (11.17, 16.27)
* Fetal akinesia deformation sequance with MUSK defect - FADS1 (11.17, 16.27)
* Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency - CMS9 (11.17, 16.27)

MYBPC1
Myosin-binding proteinC, slow type



12q23.2
* Arthrogryposis, distal, type 1B - DA1B (3.44, 12.90, 16.10)
* Lethal Congenital Contracture Syndrome 4 - LCCS4 (3.44, 12.90, 16.10)
* Congenital myopathy 16 - CMYP16 (3.44, 12.90, 16.10)

MYBPC3
Cardiac myosin binding protein-C



11p11.2
* Cardimyopathy, dilated, 1A - CMD1A (3.53, 10.4, 10.113, 10.77)
* Dilated cardiomyopathy related to MYBPC3 - (3.53, 10.4, 10.113, 10.77)
* congenital skeletal myopathy and fatal cardiomyopathy - (3.53, 10.4, 10.113, 10.77)
* Left ventricular noncompaction 10 - LVNC10 (3.53, 10.4, 10.113, 10.77)
* Cardiomyopathy, familial hypertrophic, 4 - CMH4 (3.53, 10.4, 10.113, 10.77)

MYH14
Myosin, heavy chain 14, non muscle



19q13.33
* Peripheral neuropathy, myopathy, hoarseness and hearing loss - PNMHH (12.107)

MYH2
Myosin, heavy polypeptide 2, skeletal muscle



17p13.1
* Congenital myopathy 6 with ophtalmoplegia - CMYP6 (3.31)

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, 10.189, 10.69)
* Familial hypertrophic cardiomyopathy, 14 - CMH14 (10.1, 10.13, 10.189, 10.69)
* Sick sinus syndrome 3 - SSS3 (10.1, 10.13, 10.189, 10.69)
* Cardiomyopathy, familial hypertrophic 1 - CMH1 (10.1, 10.13, 10.189, 10.69)

MYH7
Myosin, heavy polypeptide 7, cardiac muscle, beta



14q12
* Cardiomyopathy, dilated, 1S - CMD1S (3.32, 3.33, 3.51, 4.6, 10.108, 10.57)
* Myopathy, distal 1 - MPD1 (3.32, 3.33, 3.51, 3.51, 4.6, 10.108, 10.108, 10.57)
* cardiomyopathy, familial hypertrophic, 1, included - CMH1 (3.32, 3.33, 3.51, 4.6, 4.6, 10.108, 10.108, 10.57)
* Congenital myopathy 7B, myosin storage, autosomal recessive - CMYP7B (3.32, 3.33, 3.51, 4.6, 4.6, 10.108, 10.108, 10.57)
* Congenital myopathy 7A, myosin storage, autosomal dominant - CMYP7A (3.32, 3.33, 3.51, 4.6, 4.6, 10.108, 10.108, 10.57)
* Left ventricular noncompaction 5 - LVNC5 (3.32, 3.33, 3.51, 4.6, 4.6, 10.108, 10.108, 10.57)
* Myopathy, myosin storage, autosomal dominant - MSMB (3.32, 3.33, 3.51, 4.6, 4.6, 10.108, 10.108, 10.57)
* Myosin storage myopathy - (3.32, 3.33, 3.51, 4.6, 4.6, 10.108, 10.108, 10.57)

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
* Congenital myopathy 14 - CMYP14 (3.42)

MYL2
Myosin light chain 2



12q23-q24.3
* myopathy, congenital, with fiber-type disproportion - CFTD (10.9)
* Cardiomyopathy, familial hypertrophic, 10 - CMH10 (10.9, 10.9)
* Cardiomyopathy, hypertrophic, 10 - CMH10 (10.9, 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 (10.175)

MYLK2
Myosin light chain kinase 2



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

MYLPF
Myosin Light Chain Phosphorylatable Fast Skeletal Muscle



16p11.2
* Segmental amyoplasia with Distal Arthrogryposis - DA1C (16.84)

MYMK
Myomaker



9q34.2
* Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) - CFZS (3.55)

MYMX
Myomixer



6p21.1
* Carey-Fineman-Ziter syndrome 2 - CFZS2 (3.56)

MYO18B
Myosin XVIIIB



22q12.1
* Nemaline Myopathy with Cardiomyopathy - (3.15)
* Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism - KFS4 (3.15)

MYO9A
Myosin IXA



15q23
* Presynaptic congenital myasthenic syndrome 24 - CMS24 (11.32)

MYO9B
Myosin IXB



19p13.11
* Charcot-Marie-Tooth disease, axonal - (14.104)

MYOD1
Myogenic Differentiation Antigen 1



11p15.1
* Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies - MYODRIF (3.45)

MYOT
Myotilin



5q31
* Myofibrillar myopathy, myotilin related - MFM3 (4.16, 5.3, 5.4)
* Spheroid body myopathy - (4.16, 5.3, 5.4, 5.4)
* Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A (4.16, 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 (3.14, 10.24, 10.75, 10.99)
* Nemaline myopathy - NEM11 (3.14, 10.24, 10.75, 10.99)