MFM9
MCID: MYP153
MIFTS: 40

Myopathy, Myofibrillar, 9, with Early Respiratory Failure (MFM9)

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

Aliases & Classifications for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

MalaCards integrated aliases for Myopathy, Myofibrillar, 9, with Early Respiratory Failure:

Name: Myopathy, Myofibrillar, 9, with Early Respiratory Failure 56 73 6
Hereditary Myopathy with Early Respiratory Failure 56 12 24 25 58 73 29
Hmerf 56 12 24 25 58 73
Edstrom Myopathy 56 12 25 58 73
Myopathy, Proximal, with Early Respiratory Muscle Involvement 56 25 73 13
Mfm-Titinopathy 12 24 58
Mfm9 56 12 73
Mprm 56 12 73
Myopathy, Distal, with Early Respiratory Failure, Autosomal Dominant 56 73
Hereditary Inclusion Body Myopathy with Early Respiratory Failure 12 58
Myofibrillar Myopathy with Early Respiratory Failure 24 58
Myofibrillar Myopathy-Titinopathy 12 58
Hibm-Erf 12 58
Myopathy, Proximal, with Early Respiratory Muscle Involvement; Mprm 56
Autosomal Dominant Distal Myopathy with Early Respiratory Failure 12
Proximal Myopathy with Early Respiratory Muscle Involvement 12
Hereditary Myopathy with Early Respiratory Failure; Hmerf 56
Myofibrillar Myopathy 9 with Early Respiratory Failure 12
Myopathy, Hereditary with Early Respiratory Failure 39
Myofibrillar Myopathy 9 12

Characteristics:

Orphanet epidemiological data:

58
hereditary myopathy with early respiratory failure
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
slowly progressive
adult onset (range 20 to 70 years)
lower limb weakness is usually the presenting feature
clinical heterogeneity, even within families


HPO:

31
myopathy, myofibrillar, 9, with early respiratory failure:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity adult onset slow progression


GeneReviews:

24
Penetrance Penetrance appears to depend on the pathogenic variant....

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111188
OMIM 56 603689
OMIM Phenotypic Series 56 PS601419
MeSH 43 D009135
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C1863599
Orphanet 58 ORPHA178464
MedGen 41 C1863599

Summaries for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Genetics Home Reference : 25 Hereditary myopathy with early respiratory failure (HMERF) is an inherited disease that affects muscles used for movement (skeletal muscles) and muscles that are needed for breathing (respiratory muscles). The major signs and symptoms of HMERF usually appear in adulthood, often in the mid-thirties. Among the earliest signs of the condition are breathing problems and difficulty walking. Weakness of the respiratory muscles, particularly the diaphragm (the muscle that separates the organs in the abdomen from those in the chest), causes breathing problems. This weakness worsens over time and can lead to life-threatening respiratory failure. Some affected individuals have weakness of muscles of the lower leg and foot, which makes it difficult to lift the toes while walking, a condition known as foot drop. Other muscles that become weak in people with HMERF include those of the hips, thighs, upper arms, and neck. When viewed under a microscope, muscle fibers from affected individuals contain abnormal structures called cytoplasmic bodies. In many cases, the cytoplasmic bodies are arranged side-by-side in a ring inside the muscle fiber, resembling a necklace (necklace cytoplasmic bodies).

MalaCards based summary : Myopathy, Myofibrillar, 9, with Early Respiratory Failure, also known as hereditary myopathy with early respiratory failure, is related to respiratory failure and hereditary proximal myopathy with early respiratory failure. An important gene associated with Myopathy, Myofibrillar, 9, with Early Respiratory Failure is TTN (Titin). Affiliated tissues include skeletal muscle and testes, and related phenotypes are respiratory insufficiency due to muscle weakness and skeletal muscle atrophy

Disease Ontology : 12 A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has material basis in heterozygous mutation in the TTN gene on chromosome 2q31.

OMIM : 56 Myofibrillar myopathy-9 with early respiratory failure (MFM9) is an autosomal dominant muscle disorder characterized by adult onset of slowly progressive muscle weakness with diaphragmatic involvement causing respiratory insufficiency. Patients present between 20 and 70 years of age with distal or proximal muscle weakness, mainly affecting the lower limbs with foot drop or difficulty walking. The age at onset is highly variable, even within families. Nearly all patients eventually develop significant proximal and distal weakness, as well as respiratory insufficiency requiring nocturnal ventilation. Additional, more variable features may include axial weakness, neck muscle weakness, and rarely, cardiac involvement. Muscle biopsy shows myopathic or dystrophic changes with fiber splitting, eosinophilic cytoplasmic inclusions consistent with myofibrillar myopathy, rimmed vacuoles, and increased connective or fatty tissue (summary by Pfeffer et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 (601419). (603689)

UniProtKB/Swiss-Prot : 73 Myopathy, myofibrillar, 9, with early respiratory failure: An autosomal dominant myopathy characterized by adulthood onset of weakness in proximal, distal, axial and respiratory muscles. Pelvic girdle weakness, foot drop and neck weakness are the main symptoms at onset, but ultimately the weakness usually involves the proximal compartment of both upper and lower limbs. Additional features include variable degrees of Achilles tendon contractures, spinal rigidity and muscle hypertrophy. Respiratory involvement often leads to requirement for non-invasive ventilation support.

GeneReviews: NBK185330

Related Diseases for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Graphical network of the top 20 diseases related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure:



Diseases related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Symptoms & Phenotypes for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Human phenotypes related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency due to muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002747
2 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
3 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
4 rimmed vacuoles 58 31 frequent (33%) Frequent (79-30%) HP:0003805
5 type 1 muscle fiber predominance 58 31 frequent (33%) Frequent (79-30%) HP:0003803
6 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
7 neck flexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003722
8 foot dorsiflexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009027
9 reduced vital capacity 58 31 frequent (33%) Frequent (79-30%) HP:0002792
10 restrictive deficit on pulmonary function testing 58 31 frequent (33%) Frequent (79-30%) HP:0002111
11 muscle fiber splitting 58 31 frequent (33%) Frequent (79-30%) HP:0003555
12 limited hip movement 58 31 frequent (33%) Frequent (79-30%) HP:0008800
13 necrotizing myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0008978
14 orthopnea 58 31 frequent (33%) Frequent (79-30%) HP:0012764
15 internally nucleated skeletal muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0031237
16 elevated serum creatine kinase 31 frequent (33%) HP:0003236
17 proximal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003701
18 calf muscle hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008981
19 tibialis muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0008963
20 muscle fiber hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100293
21 falls 58 31 very rare (1%) Very rare (<4-1%) HP:0002527
22 gait disturbance 58 Frequent (79-30%)
23 dyspnea 58 Frequent (79-30%)
24 elevated serum creatine phosphokinase 58 Frequent (79-30%)
25 pelvic girdle muscle weakness 31 HP:0003749
26 respiratory failure 31 HP:0002878
27 difficulty walking 31 HP:0002355
28 nocturnal hypoventilation 31 HP:0002877
29 frequent falls 31 HP:0002359
30 distal muscle weakness 58 Occasional (29-5%)
31 myofibrillar myopathy 31 HP:0003715
32 quadriceps muscle weakness 31 HP:0003731
33 diaphragmatic weakness 31 HP:0009113
34 shoulder girdle muscle weakness 31 HP:0003547

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
rimmed vacuoles
difficulty walking
frequent falls
myofibrillar myopathy
muscle fiber splitting
more
Chest Diaphragm:
diaphragmatic weakness

Laboratory Abnormalities:
increased creatine kinase, mild to moderate

Respiratory:
nocturnal hypoventilation
early respiratory failure
decreased vital capacity

Cardiovascular Heart:
cardiac involvement (rare)

Clinical features from OMIM:

603689

Drugs & Therapeutics for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Search Clinical Trials , NIH Clinical Center for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Genetic Tests for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Genetic tests related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure:

# Genetic test Affiliating Genes
1 Hereditary Myopathy with Early Respiratory Failure 29 TTN

Anatomical Context for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

MalaCards organs/tissues related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure:

40
Skeletal Muscle, Testes

Publications for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Articles related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure:

(show all 47)
# Title Authors PMID Year
1
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. 61 24 56 6
23486992 2014
2
Titin mutation segregates with hereditary myopathy with early respiratory failure. 61 24 56 6
22577215 2012
3
The kinase domain of titin controls muscle gene expression and protein turnover. 24 56 6
15802564 2005
4
A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci. 24 56 6
11310621 2001
5
Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure. 56 6
16084088 2005
6
Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. 56 6
10053013 1999
7
Myopathy with respiratory failure and typical myofibrillar lesions. 24 56
2376753 1990
8
Hereditary Myopathy with Early Respiratory Failure 61 6
24575448 2014
9
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 6
25313375 2014
10
Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. 61 24
24231549 2014
11
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. 61 24
24271327 2014
12
Hereditary myopathy with early respiratory failure: occurrence in various populations. 61 24
23606733 2014
13
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. 61 24
23446887 2013
14
Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. 61 24
23514108 2013
15
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. 61 24
22577218 2012
16
BAG3-related myofibrillar myopathy in a Chinese family. 6
21361913 2012
17
An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation. 61 24
20708934 2010
18
Myofibrillar Myopathy 6
20301672 2005
19
A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: a likely chromosomal locus on 2q21. 56
10407851 1999
20
Titinopathy in a Canadian family sharing the British founder haplotype. 24
24384345 2014
21
Neuromuscular imaging in inherited muscle diseases. 24
20422195 2010
22
ALS with respiratory onset: clinical features and effects of non-invasive ventilation on the prognosis. 24
20001486 2010
23
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. 24
19767415 2009
24
Mutation in BAG3 causes severe dominant childhood muscular dystrophy. 24
19085932 2009
25
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. 24
17439987 2007
26
Respiratory failure as a first presentation of myasthenia gravis. 24
15567987 2004
27
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. 24
15505776 2004
28
Severe respiratory muscle weakness related to long-term colchicine therapy. 24
14744269 2004
29
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. 24
14681890 2003
30
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. 24
11257475 2001
31
Cytoplasmic body neuromyopathy presenting as respiratory failure and weight loss. 24
220387 1979
32
Atypical myopathy with myofibrillar aggregates. 24
165803 1975
33
Titin in muscular dystrophy and cardiomyopathy: Urinary titin as a novel marker. 61
30959043 2019
34
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects. 61
30666435 2019
35
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies. 61
30365001 2018
36
Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough. 61
29361395 2018
37
Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study. 61
27511179 2016
38
Myofibrillar myopathies: State of the art, present and future challenges. 61
26342832 2015
39
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. 61
25253871 2015
40
Diagnosis of muscle diseases presenting with early respiratory failure. 61
25377282 2015
41
New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. 61
25500009 2015
42
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. 61
24578547 2014
43
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. 61
24569025 2014
44
Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain. 61
24636144 2014
45
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure. 61
24444549 2014
46
Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare. 61
23695499 2014
47
[Myofibrillar myopaathy]. 61
24291893 2013

Variations for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

ClinVar genetic disease variations for Myopathy, Myofibrillar, 9, with Early Respiratory Failure:

6 (show top 50) (show all 1093) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTN NM_001267550.2(TTN):c.107889del (p.Lys35963fs)deletion Pathogenic 38439 rs281864930 2:179391826-179391826 2:178527099-178527099
2 TTN NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)SNV Pathogenic 132133 rs869320740 2:179410829-179410829 2:178546102-178546102
3 TTN NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)SNV Pathogenic 132134 rs869320741 2:179410778-179410778 2:178546051-178546051
4 TTN NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu)SNV Pathogenic 132135 rs786205367 2:179410777-179410777 2:178546050-178546050
5 TTN NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)SNV Pathogenic 132137 rs753334568 2:179410768-179410768 2:178546041-178546041
6 TTN NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys)SNV Pathogenic 132138 rs869320743 2:179410605-179410605 2:178545878-178545878
7 TTN NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)SNV Pathogenic 488810 rs869178171 2:179428202-179428202 2:178563475-178563475
8 TTN NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)SNV Pathogenic/Likely pathogenic 132136 rs869320742 2:179410776-179410776 2:178546049-178546049
9 TTN NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)SNV Pathogenic/Likely pathogenic 180573 rs574660186 2:179444429-179444429 2:178579702-178579702
10 TTN NM_001267550.2(TTN):c.75134_75137AGAA[1] (p.Lys25046fs)short repeat Pathogenic/Likely pathogenic 202467 rs794729340 2:179435718-179435721 2:178570991-178570994
11 TTN NM_001267550.2(TTN):c.89221dup (p.Ile29741fs)duplication Likely pathogenic 417932 rs1553543413 2:179418510-179418511 2:178553783-178553784
12 TTN NM_001267550.2(TTN):c.91615_91616dup (p.Gly30541fs)duplication Likely pathogenic 617581 rs1559187287 2:179414948-179414949 2:178550221-178550222
13 TTN NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro)SNV Likely pathogenic 617582 rs1560689563 2:179587034-179587034 2:178722307-178722307
14 TTN GRCh37/hg19 2q31.2(chr2:179403525-179655493)copy number loss Likely pathogenic 625774 2:179403525-179655493
15 TTN NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter)SNV Likely pathogenic 489308 rs1553501227 2:179400770-179400770 2:178536043-178536043
16 TTN NM_001267550.2(TTN):c.99254G>A (p.Arg33085His)SNV Conflicting interpretations of pathogenicity 535324 rs777035261 2:179403302-179403302 2:178538575-178538575
17 TTN NM_133379.5(TTN):c.583+4C>TSNV Conflicting interpretations of pathogenicity 332972 rs764670848 2:179665118-179665118 2:178800391-178800391
18 TTN NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser)SNV Conflicting interpretations of pathogenicity 332948 rs777101912 2:179638739-179638739 2:178774012-178774012
19 TTN NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe)SNV Conflicting interpretations of pathogenicity 501630 rs372309164 2:179438501-179438501 2:178573774-178573774
20 TTN NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp)SNV Conflicting interpretations of pathogenicity 501631 rs150231219 2:179654748-179654748 2:178790021-178790021
21 TTN NM_001267550.2(TTN):c.16275G>A (p.Gly5425=)SNV Conflicting interpretations of pathogenicity 332927 rs772821743 2:179597628-179597628 2:178732901-178732901
22 TTN NM_001267550.2(TTN):c.15831C>T (p.Pro5277=)SNV Conflicting interpretations of pathogenicity 332931 rs780784090 2:179598189-179598189 2:178733462-178733462
23 TTN NM_001267550.2(TTN):c.4668G>A (p.Pro1556=)SNV Conflicting interpretations of pathogenicity 332956 rs145709534 2:179642022-179642022 2:178777295-178777295
24 TTN NM_001267550.2(TTN):c.106293T>C (p.Val35431=)SNV Conflicting interpretations of pathogenicity 332681 rs749108651 2:179395049-179395049 2:178530322-178530322
25 TTN NM_001267550.2(TTN):c.99415A>G (p.Lys33139Glu)SNV Conflicting interpretations of pathogenicity 332707 rs779723670 2:179402519-179402519 2:178537792-178537792
26 TTN NM_001267550.2(TTN):c.85541A>T (p.Lys28514Met)SNV Conflicting interpretations of pathogenicity 332745 rs886055234 2:179425318-179425318 2:178560591-178560591
27 TTN NM_001267550.2(TTN):c.83985C>T (p.Asn27995=)SNV Conflicting interpretations of pathogenicity 332750 rs766611189 2:179426874-179426874 2:178562147-178562147
28 TTN NM_001267550.2(TTN):c.80145C>G (p.Val26715=)SNV Conflicting interpretations of pathogenicity 332769 rs761074887 2:179430714-179430714 2:178565987-178565987
29 TTN NM_001267550.2(TTN):c.76296T>C (p.Asp25432=)SNV Conflicting interpretations of pathogenicity 332776 rs868081432 2:179434563-179434563 2:178569836-178569836
30 TTN NM_001267550.2(TTN):c.68391G>A (p.Pro22797=)SNV Conflicting interpretations of pathogenicity 332797 rs368985748 2:179442851-179442851 2:178578124-178578124
31 TTN NM_133378.4(TTN):c.45878-4A>GSNV Conflicting interpretations of pathogenicity 332836 rs772324772 2:179470444-179470444 2:178605717-178605717
32 TTN NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe)SNV Conflicting interpretations of pathogenicity 332818 rs377529060 2:179455176-179455176 2:178590449-178590449
33 TTN NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)SNV Conflicting interpretations of pathogenicity 332848 rs376188859 2:179478861-179478861 2:178614134-178614134
34 TTN NM_001267550.2(TTN):c.46483G>A (p.Ala15495Thr)SNV Conflicting interpretations of pathogenicity 332859 rs537428006 2:179484561-179484561 2:178619834-178619834
35 TTN NM_001267550.2(TTN):c.45054G>A (p.Ala15018=)SNV Conflicting interpretations of pathogenicity 332863 rs781392140 2:179486595-179486595 2:178621868-178621868
36 TTN NM_001267550.2(TTN):c.31764C>T (p.Val10588=)SNV Conflicting interpretations of pathogenicity 332892 rs766441395 2:179554622-179554622 2:178689895-178689895
37 TTN NM_001267550.2(TTN):c.21273A>G (p.Gln7091=)SNV Conflicting interpretations of pathogenicity 332916 rs878903172 2:179588713-179588713 2:178723986-178723986
38 TTN NM_001267550.2(TTN):c.34062A>G (p.Glu11354=)SNV Conflicting interpretations of pathogenicity 332884 rs886055281 2:179542577-179542577 2:178677850-178677850
39 TTN NM_001267550.2(TTN):c.9267G>A (p.Gln3089=)SNV Conflicting interpretations of pathogenicity 332943 rs764189986 2:179632779-179632779 2:178768052-178768052
40 TTN NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)SNV Conflicting interpretations of pathogenicity 96327 rs188917199 2:179397925-179397925 2:178533198-178533198
41 TTN NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)SNV Conflicting interpretations of pathogenicity 130680 rs56341835 2:179433143-179433143 2:178568416-178568416
42 TTN NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg)SNV Conflicting interpretations of pathogenicity 96296 rs181717727 2:179449606-179449606 2:178584879-178584879
43 TTN NM_001267550.2(TTN):c.70907G>A (p.Arg23636His)SNV Conflicting interpretations of pathogenicity 96301 rs56071233 2:179439952-179439952 2:178575225-178575225
44 TTN NM_133378.4(TTN):c.80003-4G>TSNV Conflicting interpretations of pathogenicity 96312 rs201770959 2:179422286-179422286 2:178557559-178557559
45 TTN NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)SNV Conflicting interpretations of pathogenicity 96314 rs72648237 2:179418346-179418346 2:178553619-178553619
46 TTN NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)SNV Conflicting interpretations of pathogenicity 96320 rs376810671 2:179407097-179407097 2:178542370-178542370
47 TTN NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)SNV Conflicting interpretations of pathogenicity 47683 rs200378865 2:179396215-179396215 2:178531488-178531488
48 TTN NM_001267550.2(TTN):c.105183G>A (p.Ala35061=)SNV Conflicting interpretations of pathogenicity 47685 rs371075036 2:179396159-179396159 2:178531432-178531432
49 TTN NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)SNV Conflicting interpretations of pathogenicity 47687 rs55938627 2:179396114-179396114 2:178531387-178531387
50 TTN NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)SNV Conflicting interpretations of pathogenicity 47708 rs55838839 2:179393900-179393900 2:178529173-178529173

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 9, with Early Respiratory Failure:

73
# Symbol AA change Variation ID SNP ID
1 TTN p.Arg279Trp VAR_026634 rs138060032

Expression for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Search GEO for disease gene expression data for Myopathy, Myofibrillar, 9, with Early Respiratory Failure.

Pathways for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

GO Terms for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Sources for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

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19 FMA
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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