LGMDR10
MCID: MSC179
MIFTS: 40

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 (LGMDR10)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 57 72
Muscular Dystrophy, Limb-Girdle, Type 2j 57 20 72 13 70
Lgmd2j 57 20 58 72
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 20 58
Titin-Related Limb-Girdle Muscular Dystrophy R10 20 58
Limb-Girdle Muscular Dystrophy, Type 2j 29 6
Limb-Girdle Muscular Dystrophy Type 2j 20 58
Titin-Related Lgmd R10 20 58
Lgmd Type 2j 20 58
Lgmdr10 57 72
Muscular Dystrophy, Limb-Girdle, Type 2j; Lgmd2j 57
Dystrophy, Muscular, Limb-Girdle, Type 2j 39
Limb-Girdle Muscular Dystrophy 2j 72

Characteristics:

Orphanet epidemiological data:

58
titin-related limb-girdle muscular dystrophy r10
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
childhood or young adult-onset
loss of ambulation between third and sixth decade (in most patients)


HPO:

31
muscular dystrophy, limb-girdle, autosomal recessive 10:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive childhood onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 608807
OMIM Phenotypic Series 57 PS253600
MeSH 44 D049288
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 71 C1837342
Orphanet 58 ORPHA140922
MedGen 41 C1837342
UMLS 70 C1837342

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

UniProtKB/Swiss-Prot : 72 Muscular dystrophy, limb-girdle, autosomal recessive 10: An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10, also known as muscular dystrophy, limb-girdle, type 2j, is related to autosomal dominant distal myopathy and muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 is TTN (Titin). Affiliated tissues include skeletal muscle, and related phenotypes are skeletal muscle atrophy and elevated serum creatine kinase

More information from OMIM: 608807 PS253600

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant distal myopathy 29.6 TTN-AS1 TTN
2 muscular dystrophy 29.6 TTN-AS1 TTN
3 tibial muscular dystrophy 29.6 TTN-AS1 TTN
4 limb-girdle muscular dystrophy 29.5 TTN-AS1 TTN
5 cardiomyopathy, dilated, 1g 29.2 TTN-AS1 TTN
6 autosomal recessive limb-girdle muscular dystrophy type 2j 11.5
7 miyoshi muscular dystrophy 9.9
8 myopathy 9.9
9 udd distal myopathy - tibial muscular dystrophy 9.9
10 familial isolated dilated cardiomyopathy 9.9
11 left ventricular noncompaction 2 9.9 TTN-AS1 TTN
12 left ventricular noncompaction 9.9 TTN-AS1 TTN
13 multiminicore disease 9.9 TTN-AS1 TTN
14 salih myopathy 9.9 TTN-AS1 TTN
15 third-degree atrioventricular block 9.9 TTN-AS1 TTN
16 atrioventricular block 9.9 TTN-AS1 TTN
17 cardiomyopathy, familial hypertrophic, 9 9.9 TTN-AS1 TTN
18 arrhythmogenic right ventricular dysplasia, familial, 1 9.8 TTN-AS1 TTN
19 epidermolysis bullosa simplex with muscular dystrophy 9.8 TTN-AS1 TTN
20 myopathy, myofibrillar, 9, with early respiratory failure 9.8 TTN-AS1 TTN
21 respiratory failure 9.8 TTN-AS1 TTN
22 lmna-related dilated cardiomyopathy 9.8 TTN-AS1 TTN
23 hereditary proximal myopathy with early respiratory failure 9.8 TTN-AS1 TTN
24 tibial muscular dystrophy, tardive 9.8 TTN-AS1 TTN
25 cardiomyopathy, dilated, 1h 9.8 TTN-AS1 TTN
26 cardiomyopathy, dilated, 1a 9.8 TTN-AS1 TTN
27 batten-turner congenital myopathy 9.8 TTN-AS1 TTN
28 wolff-parkinson-white syndrome 9.8 TTN-AS1 TTN
29 cardiomyopathy, dilated, 1b 9.8 TTN-AS1 TTN
30 orthostatic intolerance 9.8 TTN-AS1 TTN
31 centronuclear myopathy 9.8 TTN-AS1 TTN
32 autosomal recessive limb-girdle muscular dystrophy 9.8 TTN-AS1 TTN
33 cardiomyopathy, dilated, 1e 9.8 TTN-AS1 TTN
34 myofibrillar myopathy 9.8 TTN-AS1 TTN
35 restrictive cardiomyopathy 9.8 TTN-AS1 TTN
36 muscular dystrophy, congenital, lmna-related 9.8 TTN-AS1 TTN
37 atrial fibrillation 9.7 TTN-AS1 TTN
38 atrial standstill 1 9.7 TTN-AS1 TTN
39 brugada syndrome 9.7 TTN-AS1 TTN
40 neuromuscular disease 9.7 TTN-AS1 TTN
41 long qt syndrome 9.7 TTN-AS1 TTN
42 scoliosis 9.6 TTN-AS1 TTN
43 hypertrophic cardiomyopathy 9.5 TTN-AS1 TTN

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 skeletal muscle atrophy 31 HP:0003202
2 elevated serum creatine kinase 31 HP:0003236
3 emg: myopathic abnormalities 31 HP:0003458
4 muscular dystrophy 31 HP:0003560
5 distal muscle weakness 31 HP:0002460
6 proximal muscle weakness 31 HP:0003701

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
proximal muscle weakness
muscle atrophy
myopathic changes seen on emg
dystrophic changes seen on muscle biopsy
upper and lower limbs affected
more
Cardiovascular Heart:
no cardiomyopathy

Laboratory Abnormalities:
normal or increased serum creatine kinase

Clinical features from OMIM®:

608807 (Updated 20-May-2021)

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2j 29 TTN

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10:

40
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10:

(show top 50) (show all 85)
# Title Authors PMID Year
1
Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J. 61 57 6
26392295 2016
2
Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis. 6 57
25772186 2015
3
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 6 57
12145747 2002
4
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy. 6 61
27796757 2017
5
Biophysical characterization of naturally occurring titin M10 mutations. 6 61
25739468 2015
6
Atypical phenotypes in titinopathies explained by second titin mutations. 6 61
24395473 2014
7
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. 61 6
20634290 2010
8
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. 6 61
15728284 2005
9
Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy. 6
31514951 2019
10
Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement. 6
31053406 2019
11
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy. 6
29961767 2019
12
Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation. 6
30535219 2018
13
Whole-exome sequencing reveals doubly novel heterozygous Myosin Binding Protein C and Titin mutations in a Chinese patient with severe dilated cardiomyopathy. 6
30109841 2018
14
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57
30055862 2018
15
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes. 6
29792937 2018
16
Congenital Titinopathy: Comprehensive characterization and pathogenic insights. 6
29691892 2018
17
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders. 6
29435569 2018
18
Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia. 6
29382405 2018
19
Genetic Etiology for Alcohol-Induced Cardiac Toxicity. 6
29773157 2018
20
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy. 6
29057560 2018
21
Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy. 6
29540472 2018
22
Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy. 6
29447731 2018
23
Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy. 6
29029073 2017
24
Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy. 6
28416588 2017
25
A 'second truncation' in TTN causes early onset recessive muscular dystrophy. 6
28716623 2017
26
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. 6
28877744 2017
27
Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease. 6
28611029 2017
28
Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. 6
28449774 2017
29
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. 6
28295036 2017
30
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy. 6
27813223 2017
31
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 6
27532257 2017
32
Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy. 6
27886618 2017
33
Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations. 6
28045975 2017
34
Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene. 6
27868403 2017
35
Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All Three: Explaining the Distribution of Truncation Variants in Titin. 6
27625338 2016
36
Increasing Role of Titin Mutations in Neuromuscular Disorders. 6
27854229 2016
37
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. 6
27159402 2016
38
Relevance of truncating titin mutations in dilated cardiomyopathy. 6
26777568 2016
39
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. 6
27353043 2016
40
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
41
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 6
26899768 2016
42
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. 6
26735901 2016
43
Targeted next-generation sequencing assay for detection of mutations in primary myopathies. 6
26627873 2016
44
Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death. 6
26516846 2015
45
Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. 6
26084686 2015
46
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. 6
26315439 2015
47
Atlas of the clinical genetics of human dilated cardiomyopathy. 6
25163546 2015
48
New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. 6
25500009 2015
49
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 6
25589632 2015
50
Prevalence of Titin Truncating Variants in General Population. 6
26701604 2015

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10:

6 (show top 50) (show all 8874)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTN-AS1 , TTN NM_001267550.2(TTN):c.107889del (p.Lys35963fs) Deletion Pathogenic 38439 rs281864930 GRCh37: 2:179391826-179391826
GRCh38: 2:178527099-178527099
2 TTN-AS1 , TTN NM_001267550.2(TTN):c.78851_78854TAGA[1] (p.Arg26286fs) Microsatellite Pathogenic 202473 rs794729346 GRCh37: 2:179432001-179432004
GRCh38: 2:178567274-178567277
3 TTN-AS1 , TTN NM_001267550.2(TTN):c.107377+1G>C SNV Pathogenic 949939 GRCh37: 2:179393000-179393000
GRCh38: 2:178528273-178528273
4 TTN-AS1 , TTN NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter) SNV Pathogenic 242530 rs565675340 GRCh37: 2:179393524-179393524
GRCh38: 2:178528797-178528797
5 TTN-AS1 , TTN NM_001267550.2(TTN):c.103749del (p.Lys34583fs) Deletion Pathogenic 959248 GRCh37: 2:179397593-179397593
GRCh38: 2:178532866-178532866
6 TTN-AS1 , TTN NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter) SNV Pathogenic 381589 rs72646828 GRCh37: 2:179463631-179463631
GRCh38: 2:178598904-178598904
7 TTN NM_001267550.2(TTN):c.15496+1G>A SNV Pathogenic 46601 rs397517481 GRCh37: 2:179599054-179599054
GRCh38: 2:178734327-178734327
8 TTN NM_001267550.2(TTN):c.15496+1G>T SNV Pathogenic 404903 rs397517481 GRCh37: 2:179599054-179599054
GRCh38: 2:178734327-178734327
9 TTN-AS1 , TTN NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) SNV Pathogenic 242424 rs543860009 GRCh37: 2:179453730-179453730
GRCh38: 2:178589003-178589003
10 TTN-AS1 , TTN NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) Deletion Pathogenic 47599 rs397517776 GRCh37: 2:179404492-179404493
GRCh38: 2:178539765-178539766
11 TTN-AS1 , TTN NM_001267550.2(TTN):c.72669del (p.Asp24224fs) Deletion Pathogenic 178908 rs727504531 GRCh37: 2:179438190-179438190
GRCh38: 2:178573463-178573463
12 TTN-AS1 , TTN NM_001267550.2(TTN):c.97492+1G>C SNV Pathogenic 180058 rs727505319 GRCh37: 2:179406990-179406990
GRCh38: 2:178542263-178542263
13 TTN-AS1 , TTN NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) SNV Pathogenic 223386 rs869312118 GRCh37: 2:179427344-179427344
GRCh38: 2:178562617-178562617
14 TTN-AS1 , TTN NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) SNV Pathogenic 223295 rs770038577 GRCh37: 2:179425769-179425769
GRCh38: 2:178561042-178561042
15 TTN NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) SNV Pathogenic 130666 rs587780488 GRCh37: 2:179506964-179506964
GRCh38: 2:178642237-178642237
16 TTN-AS1 , TTN NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) SNV Pathogenic 47301 rs397517689 GRCh37: 2:179439257-179439257
GRCh38: 2:178574530-178574530
17 TTN-AS1 , TTN NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) Duplication Pathogenic 202495 rs794729365 GRCh37: 2:179407530-179407531
GRCh38: 2:178542803-178542804
18 TTN-AS1 , TTN NM_001267550.2(TTN):c.86821+2T>A SNV Pathogenic 47458 rs397517735 GRCh37: 2:179424036-179424036
GRCh38: 2:178559309-178559309
19 TTN-AS1 , TTN NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) SNV Pathogenic 180010 rs727505284 GRCh37: 2:179430143-179430143
GRCh38: 2:178565416-178565416
20 TTN-AS1 , TTN NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) SNV Pathogenic 47175 rs72646846 GRCh37: 2:179454576-179454576
GRCh38: 2:178589849-178589849
21 TTN NM_133378.4(TTN):c.10361-1G>A SNV Pathogenic 223347 rs869312099 GRCh37: 2:179603088-179603088
GRCh38: 2:178738361-178738361
22 TTN-AS1 , TTN NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) SNV Pathogenic 180573 rs574660186 GRCh37: 2:179444429-179444429
GRCh38: 2:178579702-178579702
23 TTN-AS1 , TTN NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) SNV Pathogenic 180573 rs574660186 GRCh37: 2:179444429-179444429
GRCh38: 2:178579702-178579702
24 TTN-AS1 , TTN NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) SNV Pathogenic 165985 rs727503607 GRCh37: 2:179470369-179470369
GRCh38: 2:178605642-178605642
25 TTN-AS1 , TTN NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) SNV Pathogenic 179759 rs557312035 GRCh37: 2:179429538-179429538
GRCh38: 2:178564811-178564811
26 TTN-AS1 , TTN NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) SNV Pathogenic 223326 rs72648250 GRCh37: 2:179413187-179413187
GRCh38: 2:178548460-178548460
27 TTN-AS1 , TTN NM_001267550.2(TTN):c.49648+2del Deletion Pathogenic 179411 rs727504851 GRCh37: 2:179477886-179477886
GRCh38: 2:178613159-178613159
28 TTN-AS1 , TTN NM_001267550.2(TTN):c.107377+1G>A SNV Pathogenic 196723 rs112188483 GRCh37: 2:179393000-179393000
GRCh38: 2:178528273-178528273
29 TTN-AS1 , TTN NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter) SNV Pathogenic 202378 rs794729265 GRCh37: 2:179477082-179477082
GRCh38: 2:178612355-178612355
30 TTN-AS1 , TTN NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter) SNV Pathogenic 223385 rs779996703 GRCh37: 2:179431868-179431868
GRCh38: 2:178567141-178567141
31 TTN-AS1 , TTN NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs) Deletion Pathogenic 223352 rs869312100 GRCh37: 2:179425848-179425851
GRCh38: 2:178561121-178561124
32 TTN-AS1 , TTN NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr) SNV Pathogenic 242430 rs768296130 GRCh37: 2:179395188-179395188
GRCh38: 2:178530461-178530461
33 TTN-AS1 , TTN NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) SNV Pathogenic 47121 rs72646831 GRCh37: 2:179462478-179462478
GRCh38: 2:178597751-178597751
34 TTN-AS1 , TTN NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) SNV Pathogenic 132133 rs869320740 GRCh37: 2:179410829-179410829
GRCh38: 2:178546102-178546102
35 TTN-AS1 , TTN NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter) Duplication Pathogenic 290468 rs886044460 GRCh37: 2:179395204-179395205
GRCh38: 2:178530477-178530478
36 TTN-AS1 , TTN NM_003319.4(TTN):c.63060_63061del (p.Thr21020_Cys21021insTer) Deletion Pathogenic 290469 rs773840992 GRCh37: 2:179417371-179417372
GRCh38: 2:178552644-178552645
37 TTN-AS1 , TTN NM_001267550.2(TTN):c.75134_75137AGAA[1] (p.Lys25046fs) Microsatellite Pathogenic 202467 rs794729340 GRCh37: 2:179435718-179435721
GRCh38: 2:178570991-178570994
38 TTN-AS1 , TTN NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) SNV Pathogenic 132137 rs753334568 GRCh37: 2:179410768-179410768
GRCh38: 2:178546041-178546041
39 TTN-AS1 , TTN NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs) Duplication Pathogenic 573125 rs1559561666 GRCh37: 2:179453401-179453402
GRCh38: 2:178588674-178588675
40 TTN-AS1 , TTN NM_001267550.2(TTN):c.59926+1G>A SNV Pathogenic 574210 rs553526525 GRCh37: 2:179456704-179456704
GRCh38: 2:178591977-178591977
41 TTN-AS1 , TTN NM_003319.4(TTN):c.80585_80595delinsTGAAAGAAAAA (p.Glu26862_Trp26865delinsValLysGluLys) Indel Pathogenic 12652 rs281864927 GRCh37: 2:179391925-179391935
GRCh38: 2:178527198-178527208
42 TTN-AS1 , TTN NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) SNV Pathogenic 488810 rs869178171 GRCh37: 2:179428202-179428202
GRCh38: 2:178563475-178563475
43 TTN-AS1 , TTN NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) SNV Pathogenic 202371 rs374140736 GRCh37: 2:179481235-179481235
GRCh38: 2:178616508-178616508
44 TTN-AS1 , TTN NM_001267550.2(TTN):c.68308del (p.Thr22770fs) Deletion Pathogenic 422942 rs1064796112 GRCh37: 2:179443359-179443359
GRCh38: 2:178578632-178578632
45 TTN-AS1 , TTN NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter) SNV Pathogenic 646187 rs72648222 GRCh37: 2:179426040-179426040
GRCh38: 2:178561313-178561313
46 TTN-AS1 , TTN NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter) SNV Pathogenic 202379 rs754866489 GRCh37: 2:179476842-179476842
GRCh38: 2:178612115-178612115
47 TTN-AS1 , TTN NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs) Duplication Pathogenic 646940 rs1576402791 GRCh37: 2:179475008-179475009
GRCh38: 2:178610281-178610282
48 TTN-AS1 , TTN NM_001267550.2(TTN):c.103360del (p.Glu34454fs) Deletion Pathogenic 374145 rs760768093 GRCh37: 2:179397982-179397982
GRCh38: 2:178533255-178533255
49 TTN-AS1 , TTN NM_001267550.2(TTN):c.107889del (p.Lys35963fs) Deletion Pathogenic 38439 rs281864930 GRCh37: 2:179391826-179391826
GRCh38: 2:178527099-178527099
50 TTN-AS1 , TTN NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter) SNV Pathogenic 816836 rs1200988060 GRCh37: 2:179444735-179444735
GRCh38: 2:178580008-178580008

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

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