MPD1
MCID: MYP125
MIFTS: 44

Myopathy, Distal, 1 (MPD1)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Distal, 1

MalaCards integrated aliases for Myopathy, Distal, 1:

Name: Myopathy, Distal, 1 57 75 29 6
Laing Distal Myopathy 57 12 24 53 25 75 37 13
Laing Early-Onset Distal Myopathy 12 24 53 25 59 75
Mpd1 57 12 25 59 75
Distal Myopathy 1 12 25 75 15
Distal Myopathy Type 1 12 59
Gowers Disease 12 59
Myopathy, Distal, Early-Onset, Autosomal Dominant 57
Myopathy Distal Early-Onset Autosomal Dominant 75
Myopathy, Late Distal Hereditary 57
Myopathy Late Distal Hereditary 75
Welander Distal Myopathy 73
Myopathy, Distal, Type 1 40
Myopathy Distal, Type 1 53

Characteristics:

Orphanet epidemiological data:

59
laing early-onset distal myopathy
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
slowly progressive
onset in infancy or childhood
later onset has been reported
allelic to myosin storage myopathy


HPO:

32

GeneReviews:

24
Penetrance Penetrance appears to be at least 85%...

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 160500
Disease Ontology 12 DOID:0070197
Orphanet 59 ORPHA59135
ICD10 via Orphanet 34 G71.0
MeSH 44 D049310
KEGG 37 H01977
UMLS 73 C0221054

Summaries for Myopathy, Distal, 1

NIH Rare Diseases : 53 Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk. Weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. As the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. Other findings include scoliosis and cardiomyopathy in up to one third of individuals. Most affected people remain mobile throughout life. Life expectancy is normal. Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an autosomal dominant fashion. Treatment may include physiotherapy to prevent tightening of the Achilles tendon and splinting of the ankle. Annual neurologic examinations, evaluations for scoliosis, and regular assessments of cardiac and respiratory functions may be necessary. 

MalaCards based summary : Myopathy, Distal, 1, also known as laing distal myopathy, is related to miyoshi muscular dystrophy and myopathy, and has symptoms including myalgia An important gene associated with Myopathy, Distal, 1 is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Silicon and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and heart, and related phenotypes are high palate and gait disturbance

Disease Ontology : 12 A distal muscular dystrophy characterized by autosomal dominant inheritance that has material basis in mutation in the MYH7 gene on chromosome 14q11.

Genetics Home Reference : 25 Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. This weakness leads to tightening of the Achilles tendon (the band that connects the heel of the foot to the calf muscles), an inability to lift the first (big) toe, and a high-stepping walk. Months to years later, muscle weakness develops in the hands and wrists. Weakness in these muscles makes it difficult to lift the fingers, particularly the third and fourth fingers. Many affected people also experience hand tremors.

UniProtKB/Swiss-Prot : 75 Myopathy, distal, 1: A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease.

Description from OMIM: 160500
GeneReviews: NBK1433

Related Diseases for Myopathy, Distal, 1

Graphical network of the top 20 diseases related to Myopathy, Distal, 1:



Diseases related to Myopathy, Distal, 1

Symptoms & Phenotypes for Myopathy, Distal, 1

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis

Muscle Soft Tissue:
myalgia
ragged red fibers
type 1 fiber predominance
weakness of ankle and toe extensor (dorsiflexor) muscles
atrophy of ankle and toe extensor (dorsiflexor) muscles
more
Head And Neck Mouth:
high-arched palate

Cardiovascular Heart:
dilated cardiomyopathy may occur

Skeletal Feet:
pes cavus

Head And Neck Neck:
neck muscle weakness

Head And Neck Face:
facial muscle weakness, mild

Laboratory Abnormalities:
normal to mildly increased serum creatine kinase


Clinical features from OMIM:

160500

Human phenotypes related to Myopathy, Distal, 1:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 gait disturbance 32 HP:0001288
3 scoliosis 32 HP:0002650
4 facial palsy 32 HP:0010628
5 pes cavus 32 HP:0001761
6 dilated cardiomyopathy 32 occasional (7.5%) HP:0001644
7 rimmed vacuoles 32 HP:0003805
8 ragged-red muscle fibers 32 HP:0003200
9 myalgia 32 HP:0003326
10 type 1 muscle fiber predominance 32 HP:0003803
11 proximal muscle weakness 32 occasional (7.5%) HP:0003701
12 mildly elevated creatine phosphokinase 32 HP:0008180
13 neck muscle weakness 32 HP:0000467
14 amyotrophy of ankle musculature 32 HP:0009031
15 distal muscle weakness 32 HP:0002460
16 weakness of long finger extensor muscles 32 HP:0009077
17 emg 32 HP:0003445
18 toe extensor amyotrophy 32 HP:0011916

UMLS symptoms related to Myopathy, Distal, 1:


myalgia

Drugs & Therapeutics for Myopathy, Distal, 1

Drugs for Myopathy, Distal, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silicon Approved, Investigational Not Applicable 7440-21-3 4082203
2 Micronutrients Not Applicable
3 Pharmaceutical Solutions Not Applicable
4 Trace Elements Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Case Control Study of the Prevalence of Pulmonary Hypertension in Patients With Myeloproliferative Diseases. Unknown status NCT01884974
2 The Clinical and Subjective Performance of Three Different MPDS With Silicon Hydrogel Lenses Completed NCT01665612 Not Applicable

Search NIH Clinical Center for Myopathy, Distal, 1

Genetic Tests for Myopathy, Distal, 1

Genetic tests related to Myopathy, Distal, 1:

# Genetic test Affiliating Genes
1 Myopathy, Distal, 1 29 MYH7

Anatomical Context for Myopathy, Distal, 1

MalaCards organs/tissues related to Myopathy, Distal, 1:

41
Skeletal Muscle, Heart

Publications for Myopathy, Distal, 1

Articles related to Myopathy, Distal, 1:

# Title Authors Year
1
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. ( 30166250 )
2018
2
Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene. ( 27469267 )
2016
3
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture. ( 27519903 )
2016
4
A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family. ( 25447691 )
2015
5
Laing distal myopathy pathologically resembling inclusion body myositis. ( 25574480 )
2014
6
Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy. ( 24300783 )
2013
7
A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient. ( 21279644 )
2011
8
Clinical utility gene card for: Laing distal myopathy. ( 21150886 )
2011
9
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. ( 20733148 )
2010
10
Laing Distal Myopathy ( 20301606 )
1993

Variations for Myopathy, Distal, 1

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Distal, 1:

75
# Symbol AA change Variation ID SNP ID
1 MYH7 p.Arg1500Pro VAR_022369 rs121913647
2 MYH7 p.Ala1663Pro VAR_022370 rs797044601
3 MYH7 p.Leu1706Pro VAR_022371 rs797044602
4 MYH7 p.Thr441Met VAR_042785 rs121913653

ClinVar genetic disease variations for Myopathy, Distal, 1:

6 (show top 50) (show all 259)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
2 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh38 Chromosome 14, 23429279: 23429279
3 MYH7 NM_000257.3(MYH7): c.4499G> C (p.Arg1500Pro) single nucleotide variant Pathogenic rs121913647 GRCh37 Chromosome 14, 23886382: 23886382
4 MYH7 NM_000257.3(MYH7): c.4499G> C (p.Arg1500Pro) single nucleotide variant Pathogenic rs121913647 GRCh38 Chromosome 14, 23417173: 23417173
5 MYH7 NM_000257.3(MYH7): c.1322C> T (p.Thr441Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121913653 GRCh37 Chromosome 14, 23898249: 23898249
6 MYH7 NM_000257.3(MYH7): c.1322C> T (p.Thr441Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121913653 GRCh38 Chromosome 14, 23429040: 23429040
7 MYH7 NM_000257.3(MYH7): c.77C> T (p.Ala26Val) single nucleotide variant Benign rs186964570 GRCh37 Chromosome 14, 23902865: 23902865
8 MYH7 NM_000257.3(MYH7): c.77C> T (p.Ala26Val) single nucleotide variant Benign rs186964570 GRCh38 Chromosome 14, 23433656: 23433656
9 MYH7 NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del) deletion Pathogenic rs367543052 GRCh37 Chromosome 14, 23884685: 23884687
10 MYH7 NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del) deletion Pathogenic rs367543052 GRCh38 Chromosome 14, 23415476: 23415478
11 MYH7 NM_000257.3(MYH7): c.1000-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200129563 GRCh37 Chromosome 14, 23899129: 23899129
12 MYH7 NM_000257.3(MYH7): c.1000-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200129563 GRCh38 Chromosome 14, 23429920: 23429920
13 MYH7 NM_000257.3(MYH7): c.1002C> T (p.Asn334=) single nucleotide variant Benign rs34803781 GRCh37 Chromosome 14, 23899120: 23899120
14 MYH7 NM_000257.3(MYH7): c.1002C> T (p.Asn334=) single nucleotide variant Benign rs34803781 GRCh38 Chromosome 14, 23429911: 23429911
15 MYH7 NM_000257.3(MYH7): c.1062C> T (p.Gly354=) single nucleotide variant Benign rs735712 GRCh37 Chromosome 14, 23899060: 23899060
16 MYH7 NM_000257.3(MYH7): c.1062C> T (p.Gly354=) single nucleotide variant Benign rs735712 GRCh38 Chromosome 14, 23429851: 23429851
17 MYH7 NM_000257.3(MYH7): c.1095G> A (p.Lys365=) single nucleotide variant Benign rs735711 GRCh37 Chromosome 14, 23899027: 23899027
18 MYH7 NM_000257.3(MYH7): c.1095G> A (p.Lys365=) single nucleotide variant Benign rs735711 GRCh38 Chromosome 14, 23429818: 23429818
19 MYH7 NM_000257.3(MYH7): c.1128C> T (p.Asp376=) single nucleotide variant Benign rs2231126 GRCh37 Chromosome 14, 23898994: 23898994
20 MYH7 NM_000257.3(MYH7): c.1128C> T (p.Asp376=) single nucleotide variant Benign rs2231126 GRCh38 Chromosome 14, 23429785: 23429785
21 MYH7 NM_000257.3(MYH7): c.1191G> A (p.Lys397=) single nucleotide variant Conflicting interpretations of pathogenicity rs139506719 GRCh37 Chromosome 14, 23898504: 23898504
22 MYH7 NM_000257.3(MYH7): c.1191G> A (p.Lys397=) single nucleotide variant Conflicting interpretations of pathogenicity rs139506719 GRCh38 Chromosome 14, 23429295: 23429295
23 MYH7 NM_000257.3(MYH7): c.1605A> G (p.Glu535=) single nucleotide variant Benign rs2069543 GRCh37 Chromosome 14, 23897077: 23897077
24 MYH7 NM_000257.3(MYH7): c.1605A> G (p.Glu535=) single nucleotide variant Benign rs2069543 GRCh38 Chromosome 14, 23427868: 23427868
25 MYH7 NM_000257.3(MYH7): c.1755C> A (p.Ile585=) single nucleotide variant Likely benign rs201860580 GRCh37 Chromosome 14, 23896927: 23896927
26 MYH7 NM_000257.3(MYH7): c.1755C> A (p.Ile585=) single nucleotide variant Likely benign rs201860580 GRCh38 Chromosome 14, 23427718: 23427718
27 MYH7 NM_000257.3(MYH7): c.1767C> T (p.Asn589=) single nucleotide variant Benign rs3729816 GRCh37 Chromosome 14, 23896915: 23896915
28 MYH7 NM_000257.3(MYH7): c.1767C> T (p.Asn589=) single nucleotide variant Benign rs3729816 GRCh38 Chromosome 14, 23427706: 23427706
29 MYH7 NM_000257.3(MYH7): c.1888+8G> T single nucleotide variant Likely benign rs200668471 GRCh37 Chromosome 14, 23896786: 23896786
30 MYH7 NM_000257.3(MYH7): c.1888+8G> T single nucleotide variant Likely benign rs200668471 GRCh38 Chromosome 14, 23427577: 23427577
31 MYH7 NM_000257.3(MYH7): c.189C> T (p.Thr63=) single nucleotide variant Benign rs2069540 GRCh37 Chromosome 14, 23902753: 23902753
32 MYH7 NM_000257.3(MYH7): c.189C> T (p.Thr63=) single nucleotide variant Benign rs2069540 GRCh38 Chromosome 14, 23433544: 23433544
33 MYH7 NM_000257.3(MYH7): c.1983C> T (p.Asn661=) single nucleotide variant Conflicting interpretations of pathogenicity rs146474860 GRCh37 Chromosome 14, 23896047: 23896047
34 MYH7 NM_000257.3(MYH7): c.1983C> T (p.Asn661=) single nucleotide variant Conflicting interpretations of pathogenicity rs146474860 GRCh38 Chromosome 14, 23426838: 23426838
35 MYH7 NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516127 GRCh37 Chromosome 14, 23896043: 23896043
36 MYH7 NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516127 GRCh38 Chromosome 14, 23426834: 23426834
37 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh37 Chromosome 14, 23896042: 23896042
38 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh38 Chromosome 14, 23426833: 23426833
39 MYH7 NM_000257.3(MYH7): c.2349C> T (p.Arg783=) single nucleotide variant Conflicting interpretations of pathogenicity rs139882431 GRCh37 Chromosome 14, 23894565: 23894565
40 MYH7 NM_000257.3(MYH7): c.2349C> T (p.Arg783=) single nucleotide variant Conflicting interpretations of pathogenicity rs139882431 GRCh38 Chromosome 14, 23425356: 23425356
41 MYH7 NM_000257.3(MYH7): c.2360G> A (p.Arg787His) single nucleotide variant Uncertain significance rs376754645 GRCh37 Chromosome 14, 23894554: 23894554
42 MYH7 NM_000257.3(MYH7): c.2360G> A (p.Arg787His) single nucleotide variant Uncertain significance rs376754645 GRCh38 Chromosome 14, 23425345: 23425345
43 MYH7 NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr) single nucleotide variant Pathogenic/Likely pathogenic rs3218716 GRCh37 Chromosome 14, 23894525: 23894525
44 MYH7 NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr) single nucleotide variant Pathogenic/Likely pathogenic rs3218716 GRCh38 Chromosome 14, 23425316: 23425316
45 MYH7 NM_000257.3(MYH7): c.2769C> T (p.Asn923=) single nucleotide variant Benign rs36211716 GRCh37 Chromosome 14, 23893269: 23893269
46 MYH7 NM_000257.3(MYH7): c.2769C> T (p.Asn923=) single nucleotide variant Benign rs36211716 GRCh38 Chromosome 14, 23424060: 23424060
47 MYH7 NM_000257.3(MYH7): c.2890G> C (p.Val964Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45496496 GRCh37 Chromosome 14, 23893148: 23893148
48 MYH7 NM_000257.3(MYH7): c.3853+7C> T single nucleotide variant Benign rs45467397 GRCh37 Chromosome 14, 23888685: 23888685
49 MYH7 NM_000257.3(MYH7): c.3853+7C> T single nucleotide variant Benign rs45467397 GRCh38 Chromosome 14, 23419476: 23419476
50 MYH7 NM_000257.3(MYH7): c.3918C> T (p.Leu1306=) single nucleotide variant Benign rs144420313 GRCh37 Chromosome 14, 23888440: 23888440

Expression for Myopathy, Distal, 1

Search GEO for disease gene expression data for Myopathy, Distal, 1.

Pathways for Myopathy, Distal, 1

Pathways related to Myopathy, Distal, 1 according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 CFL2 MYH2 MYH3 MYH6 MYH7 MYH8
2
Show member pathways
13.13 CFL2 MYH2 MYH3 MYH6 MYH7 MYH8
3
Show member pathways
13.05 MYH2 MYH3 MYH6 MYH7 MYH8
4
Show member pathways
13.04 CFL2 MYH2 MYH3 MYH6 MYH7 MYH8
5
Show member pathways
12.82 CFL2 MYH2 MYH3 MYH6 MYH7 MYH8
6
Show member pathways
12.81 MYH2 MYH3 MYH6 MYH7 MYH8
7
Show member pathways
12.74 CFL2 MYH2 MYH3 MYH6 MYH7 MYH8
8
Show member pathways
12.67 CFL2 MYH2 MYH3 MYH6 MYH7 MYH8
9
Show member pathways
12.49 MYH3 MYH6 MYH8
10
Show member pathways
12.29 CFL2 MYH2 MYH3 MYH6 MYH7 MYH8
11
Show member pathways
12.23 MYH2 MYH3 MYH6 MYH7 MYH8
12 11.97 MYH2 MYH3 MYH8
13
Show member pathways
11.95 CFL2 MYH2 MYH3 MYH6 MYH7 MYH8
14
Show member pathways
11.78 CFL2 MYH2 MYH3 MYH6 MYH7 MYH8
15 11.57 MYH3 MYH6 MYH8
16 11.47 MYH6 MYH7
17 11.35 MYH2 MYH3 MYH6 MYH7 MYH8
18 10.87 MYH2 MYH3 MYH6 MYH7 MYH8
19 10.64 CFL2 MYH2 MYH3 MYH6 MYH7 MYH8

GO Terms for Myopathy, Distal, 1

Cellular components related to Myopathy, Distal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.91 CFL2 MYH2 MYH3 MYH6 MYH7 MYH8
2 sarcomere GO:0030017 9.72 MYH2 MYH3 MYH6 MYH7 MYH8
3 myosin complex GO:0016459 9.65 MYH2 MYH3 MYH6 MYH7 MYH8
4 myofibril GO:0030016 9.55 MYH2 MYH3 MYH6 MYH7 MYH8
5 Z disc GO:0030018 9.54 CFL2 MYH6 MYH7
6 stress fiber GO:0001725 9.4 MYH6 MYH7
7 myosin filament GO:0032982 9.35 MYH2 MYH3 MYH6 MYH7 MYH8
8 muscle myosin complex GO:0005859 9.02 MYH2 MYH3 MYH6 MYH7 MYH8

Biological processes related to Myopathy, Distal, 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein dephosphorylation GO:0006470 9.63 MYH3 MYH6 MYH8
2 cardiac muscle contraction GO:0060048 9.54 MYH6 MYH7
3 regulation of heart rate GO:0002027 9.52 MYH6 MYH7
4 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.51 MYH6 MYH7
5 sarcomere organization GO:0045214 9.5 CFL2 MYH3 MYH6
6 actin filament-based movement GO:0030048 9.49 MYH3 MYH6
7 regulation of the force of heart contraction GO:0002026 9.48 MYH6 MYH7
8 muscle contraction GO:0006936 9.46 MYH2 MYH6 MYH7 MYH8
9 striated muscle contraction GO:0006941 9.43 MYH6 MYH7
10 skeletal muscle contraction GO:0003009 9.43 MYH3 MYH7 MYH8
11 adult heart development GO:0007512 9.4 MYH6 MYH7
12 cardiac muscle hypertrophy in response to stress GO:0014898 9.37 MYH6 MYH7
13 ATP metabolic process GO:0046034 9.26 MYH3 MYH6 MYH7 MYH8
14 muscle filament sliding GO:0030049 9.02 MYH2 MYH3 MYH6 MYH7 MYH8

Molecular functions related to Myopathy, Distal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.85 MYH2 MYH3 MYH6 MYH7 MYH8
2 nucleotide binding GO:0000166 9.8 MYH2 MYH3 MYH6 MYH7 MYH8
3 actin binding GO:0003779 9.77 MYH2 MYH3 MYH6 MYH7 MYH8
4 calmodulin binding GO:0005516 9.72 MYH2 MYH3 MYH6 MYH7 MYH8
5 ATPase activity GO:0016887 9.65 MYH6 MYH7 MYH8
6 motor activity GO:0003774 9.55 MYH2 MYH3 MYH6 MYH7 MYH8
7 actin-dependent ATPase activity GO:0030898 9.43 MYH6 MYH7
8 myosin phosphatase activity GO:0017018 9.43 MYH3 MYH6 MYH8
9 actin filament binding GO:0051015 9.43 CFL2 MYH2 MYH3 MYH6 MYH7 MYH8
10 microfilament motor activity GO:0000146 9.02 MYH2 MYH3 MYH6 MYH7 MYH8

Sources for Myopathy, Distal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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