Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
MACF1Microtubule-actin cross-linking factor 1     | 1p34.3 | * Spectraplakinopathy - (17.35)
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MAGMyelin associated glycoprotein     | 19q13.12 | * Spastic paraplegia 75, autosomal recessive - SPG75 (15.65)
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MAP3K20Mitogen-activated protein kinase kinase 20     | 2q31.1 | * Centronuclear myopathy 6 with fiber-type disproportion - CNM6 (3.22)
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MAPTMicrotubule associated protein Tau     | 17q21.31 | * Lower motor neuron disease with respiratory failure related to MAPT - (12.111)
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MARS1Methionyl-tRNA synthetase     | 12q13.3 | * Charcot-Marie-Tooth neuropathy Type 2U - CMT2U (14.63, 15.62)
* Spastic paraplegia 70, autosomal recessive - SPG70 (14.63, 15.62)
|
MARS2Methionyl-tRNA synthetase 2, mitochondrial(M)     | 2q33-34 | * autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL (15.93)
|
| 5q31 | * Vocal cord and pharyngeal distal myopathy - VCPDM (4.13, 12.74)
* Familial amyotrophic lateral sclerosis - ALS21 (4.13, 12.74)
|
| 22q12.3 | * Myopathy with characteristic sarcoplasmic inclusions - (5.44)
|
MCM3APMinichromosome maintenance 3-associated protein     | 21q22.3 | * Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development - PNRIID (12.112, 14.99) * Charcot-Marie-Tooth disease, axonal - (12.112, 14.99)
|
| 19p13.2 | * Lysosomal storage myopathy - ML4 (3.65)
|
MEGF10Multiple EGF-like-domains 10     | 5q23.2 | * Congenital myopathy 10A, severe variant - CMYP10A (3.29, 3.30)
* Congenital myopathy 10B, mild variant - CMYP10B (3.29, 3.30)
|
| 7q31.2 | * Arthrogryposis, distal type 11 - DA11 (17.21)
|
| 1p36.22 | * Hereditary motor and sensory neuropathy 2A - CMT2A2A (14.48, 14.72, 14.80)
* Charcot-Marie-Tooth disease, axonal, type 2A2B - CMT2A2B (14.48, 14.72, 14.80)
* Hereditary motor and sensory neuropathy, type VIA with optic atrophy - HMSN6A (14.48, 14.72, 14.80)
|
MGME1Mitochondrial genome maintenance exonuclease 1(M)     | 20p11.23 | * Mitochondrial DNA depletion syndrome 11 - MTDPS11 (16.17)
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MIB1Mindbomb homolog 1 (drosophila)     | 18q11.2 | * Left ventricular noncompaction 7 - LVNC7 (10.110)
|
MICU1Mitochondrial Calcium Uptake Protein 1     | 10q22.1 | * Myopathy with extrapyramidal signs - MPXPS (5.45)
|
MLIPMuscular LMNA-interacting protein     | 6p12.1 | * Myopathy with myalgia, increased serum creatine kinase and with or without episodic rhabdomyolysis - MMCKR (9.12)
|
MMEMembrane metallo-endopeptidase     | 3q25.2 | * Charcot-Marie-Tooth neuropathy Type 2T - CMT2T (13.39, 14.92)
* Spinocerebellar Ataxia, type 43 - SCA43 (13.39, 14.92)
|
MORC2MORC family CW-type zinc finger 2     | 2q12.2 | * Charcot-Marie-Tooth neuropathy Type 2Z - CMT2Z (14.67)
|
MPDU1Mannose-P-dolichol utilization defect 1     | 17p13.1 | * Congenital disorder of glycosylation type 1 - CDG1F (9.14)
|
MPV17MpV17 mitochondrial inner membrane protein(M)     | 2p23.3 | * Charcot-Marie-Tooth disease, axonal, type 2EE - CMT2EE (14.83)
|
| 1q22 | * Charcot-Marie-Tooth disease, type 2I - CMT2I (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
* Charcot-Marie-Tooth disease, type 2J - CMT2J (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
* Charcot-Marie-Tooth disease, type 1B - CMT1B (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
* Neuropathy, congenital hypomyelinating, 2 - CHN2 (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
* Dejerine-Sottas syndrome - DSSA (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
|
MRE11AMRE11 meiotic recombination 11 homolog A     | 11q21 | * ataxia telangiectasia-like disorder - ATLD (13.100)
|
MRPL3Mitochondrial ribosomal protein L3(M)     | 3q21-q23 | * Hypertrophic mitochondrial cardiomyopathy related to MRPL3 - (10.34)
|
MRPL44Mitochondrial ribosomal protein L44(M)     | 2q36.1 | * Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16 (10.36)
|
MRPS25Mitochondrial ribosomal protein S25(M)     | 3p25.1 | * Combined oxidative phosphorylation deficiency 50 - COXPD50 (17.47)
|
| 2q32.2 | * Muscle hypertrophy - MSLHP (5.30)
|
MSTO1Misato homolog 1 (Drosophila)(M)     | 1q22 | * Myopathy, mitochondrial and cerebellar ataxia - MMYAT (2.50, 13.106, 16.29)
|
| Xq28 | * Myotubular myopathy, X-linked - MTM1 (3.17)
|
MTMR2Myotubularin-related protein 2     | 11q22 | * Charcot-Marie-Tooth disease, type 4B1 - CMT4B1 (14.23)
|
MTO1Mitochondrial tRNA translation optimization 1(M)     | 6q13 | * Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10 (10.35)
|
MTPAPMitochondrial poly(A) polymerase(M)     | 10p12.1 | * Spastic ataxia 4 autosomal recessive - SPAX4 (15.94)
|
MURCMuscle-related coiled-coil protein     | 9q31.1 | * Dilated cardiomyopathy related to MURC - (10.93)
|
MUSKMuscle, skeletal, receptor tyrosine kinase     | 9q31.3-q32 | * Congenital myasthenic syndrome related to MuSK - CMS1B (11.17, 17.28)
* Fetal akinesia deformation sequance with MUSK defect - FADS1 (11.17, 17.28)
* Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency - CMS9 (11.17, 17.28)
|
MYBPC1Myosin-binding proteinC, slow type     | 12q23.2 | * Arthrogryposis, distal, type 1B - DA1B (3.55, 12.93, 17.10)
* Lethal Congenital Contracture Syndrome 4 - LCCS4 (3.55, 12.93, 17.10)
* Congenital myopathy 16 - CMYP16 (3.55, 12.93, 17.10)
|
MYBPC3Cardiac myosin binding protein-C     | 11p11.2 | * Cardimyopathy, dilated, 1A - CMD1A (3.40, 10.4, 10.113, 10.76) * Dilated cardiomyopathy related to MYBPC3 - (3.40, 10.4, 10.113, 10.76) * congenital skeletal myopathy and fatal cardiomyopathy - (3.40, 10.4, 10.113, 10.76)
* Left ventricular noncompaction 10 - LVNC10 (3.40, 10.4, 10.113, 10.76)
* Cardiomyopathy, familial hypertrophic, 4 - CMH4 (3.40, 10.4, 10.113, 10.76)
|
MYH14Myosin, heavy chain 14, non muscle     | 19q13.33 | * Peripheral neuropathy, myopathy, hoarseness and hearing loss - PNMHH (12.110)
|
MYH2Myosin, heavy polypeptide 2, skeletal muscle     | 17p13.1 | * Congenital myopathy 6 with ophtalmoplegia - CMYP6 (3.34)
|
MYH3Myosine, heavy chain 3, skeletal muscle, embryonic     | 17p13 | * Arthrogryposis, distal, type 2A - DA2A (17.11, 17.14)
* Arthrogryposis, distal, type 2B - DA2B (17.11, 17.14)
|
| 14q12 | * Cardiomyopathy, dilated, 1EE - CMD1EE (10.1, 10.13, 10.189, 10.68)
* Familial hypertrophic cardiomyopathy, 14 - CMH14 (10.1, 10.13, 10.189, 10.68)
* Sick sinus syndrome 3 - SSS3 (10.1, 10.13, 10.189, 10.68)
* Cardiomyopathy, familial hypertrophic 1 - CMH1 (10.1, 10.13, 10.189, 10.68)
|
MYH7Myosin, heavy polypeptide 7, cardiac muscle, beta     | 14q12 | * Cardiomyopathy, dilated, 1S - CMD1S (3.31, 3.32, 3.33, 4.6, 10.108, 10.56)
* Myopathy, distal 1 - MPD1 (3.31, 3.32, 3.33, 4.6, 10.108, 10.56)
* cardiomyopathy, familial hypertrophic, 1, included - CMH1 (3.31, 3.32, 3.33, 4.6, 10.108, 10.56)
* Congenital myopathy 7B, myosin storage, autosomal recessive - CMYP7B (3.31, 3.32, 3.33, 4.6, 10.108, 10.56)
* Congenital myopathy 7A, myosin storage, autosomal dominant - CMYP7A (3.31, 3.32, 3.33, 4.6, 10.108, 10.56)
* Left ventricular noncompaction 5 - LVNC5 (3.31, 3.32, 3.33, 4.6, 10.108, 10.56)
* Myopathy, myosin storage, autosomal dominant - MSMB (3.31, 3.32, 3.33, 4.6, 10.108, 10.56)
* Myosin storage myopathy - (3.31, 3.32, 3.33, 4.6, 10.108, 10.56)
|
MYH8Myosin heavy chain, 8, skeletal muscle, perinatal     | 17p13 | * Myosin, heavy chain, perinatal - MYH8 (17.19)
|
MYL1Myosin, light polypeptide 1, alkali, skeletal fast     | 2q34 | * Congenital myopathy 14 - CMYP14 (3.53)
|
| 12q23-q24.3 | * myopathy, congenital, with fiber-type disproportion - CFTD (10.9)
* Cardiomyopathy, familial hypertrophic, 10 - CMH10 (10.9)
* Cardiomyopathy, hypertrophic, 10 - CMH10 (10.9)
|
| 3p21.3-p21.2 | * Cardiomopathy, hypertrophic, mid-ventricular chamber type - MYL3 (10.7)
|
MYL4Myosin, Light Chain 4, Alkali, Atrial, Embryonic     | 17q21.32 | * ATFB18 - Atrial fibrillation (10.175)
|
MYLK2Myosin light chain kinase 2     | 20q13.31 | * cardiomyopathy, familial hypertrophic - CMH (10.15)
|
MYLPFMyosin Light Chain Phosphorylatable Fast Skeletal Muscle     | 16p11.2 | * Segmental amyoplasia with Distal Arthrogryposis - DA1C (17.36)
|
| 9q34.2 | * Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) - CFZS (3.47)
|
| 22q12.1 | * Nemaline Myopathy with
Cardiomyopathy - (3.14)
* Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism - KFS4 (3.14)
|
| 15q23 | * Presynaptic congenital myasthenic syndrome 24 - CMS24 (11.32)
|
| 19p13.11 | * Charcot-Marie-Tooth disease, axonal - (14.101)
|
MYOD1Myogenic Differentiation Antigen 1     | 11p15.1 | * Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies - MYODRIF (3.56)
|
| 5q31 | * Myofibrillar myopathy, myotilin related - MFM3 (4.16, 5.3, 5.4)
* Spheroid body myopathy - (4.16, 5.3, 5.4)
* Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A (4.16, 5.3, 5.4)
|
MYOZ2Myozenin 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)
|
| 10q21.1 | * Hypertrophic cardiomyopathy related to cardiac myopalladin - CMH22 (3.13, 10.24, 10.74, 10.99)
* Nemaline myopathy - NEM11 (3.13, 10.24, 10.74, 10.99)
|