Myopathy, Myofibrillar, 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MFM2 MCID: MYP082 MIFTS: 41	Myopathy, Myofibrillar, 2 (MFM2) Categories: Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Myopathy, Myofibrillar, 2

MalaCards integrated aliases for Myopathy, Myofibrillar, 2:

Name: Myopathy, Myofibrillar, 2 ⁵⁷ ⁷⁴

Alpha-B Crystallinopathy ⁵⁷ ¹² ⁷⁴ ²⁹ ⁶ ⁷²

Myopathy, Myofibrillar, Alpha-B Crystallin-Related ⁵⁷ ¹³

Myofibrillar Myopathy 2 ¹² ¹⁵

Mfm2 ⁵⁷ ⁷⁴

Myopathy, Myofibrillar, with or Without Cataract and/or Cardiomyopathy ⁵⁷

Myopathy, Desmin-Related, Associated with Mutation in the Cryab Gene ⁵⁷

Myofibrillar Myopathy with or Without Cataract and/or Cardiomyopathy ⁷⁴

Myopathy Desmin-Related Associated with Mutation in the Cryab Gene ⁷⁴

Alpha-B Crystallin-Related Late-Onset Distal Myopathy ⁵⁹

Myopathy Cardioskeletal Desmin-Related with Cataract ⁷⁴

Myofibrillar Myopathy Alpha-B Crystallin-Related ⁷⁴

Alpha-B Crystallin-Related Late-Onset Myopathy ⁵⁹

Alpha-B Crystallinopathy with Cataract ⁷⁴

Desmin-Related Myopathy with Cataract ⁷⁴

Late-Onset Distal Crystallinopathy ⁵⁹

Mfm Alpha-B Crystallin-Related ⁷⁴

Myopathy, Myofibrillar, Type 2 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Miscellaneous:
adult onset
slowly progressive
clinical variability
two patients without cardiomyopathy or cataracts have been reported

Inheritance:
autosomal dominant

HPO:

³²

myopathy, myofibrillar, 2:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Muscle diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Muscular dystrophy

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0080093

OMIM ⁵⁷ 608810 PS601419

MeSH ⁴⁴ D020914

ICD10 via Orphanet ³⁴ G71.0

Orphanet ⁵⁹ ORPHA399058

MedGen ⁴² C1837317

UMLS ⁷² C1837317

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Summaries for Myopathy, Myofibrillar, 2

OMIM : ⁵⁷ Alpha-B crystallin-related myofibrillar myopathy is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts. There is phenotypic variability both within and between families (Fardeau et al., 1978; Selcen and Engel, 2003). A homozygous founder mutation in the CRYAB gene has been identified in Canadian aboriginal infants of Cree origin who have a severe fatal infantile hypertonic form of myofibrillar myopathy; see 613869. For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). (608810)

MalaCards based summary : Myopathy, Myofibrillar, 2, also known as alpha-b crystallinopathy, is related to myopathy, myofibrillar, 4 and autosomal recessive limb-girdle muscular dystrophy type 2q. An important gene associated with Myopathy, Myofibrillar, 2 is CRYAB (Crystallin Alpha B), and among its related pathways/superpathways are Apoptosis and survival Caspase cascade and Cytoskeletal Signaling. Related phenotypes are dysphonia and dysphagia

Disease Ontology : ¹² A myofibrillar myopathy that has material basis in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.

UniProtKB/Swiss-Prot : ⁷⁴ Myopathy, myofibrillar, 2: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2 is characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients.

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Related Diseases for Myopathy, Myofibrillar, 2

Diseases in the Myofibrillar Myopathy family:

Myopathy, Myofibrillar, 1	Myopathy, Myofibrillar, 2
Myopathy, Myofibrillar, 3	Myopathy, Myofibrillar, 4
Myopathy, Myofibrillar, 5	Myopathy, Myofibrillar, 6
Myopathy, Myofibrillar, 7	Myopathy, Myofibrillar, 8

Diseases related to Myopathy, Myofibrillar, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)

#	Related Disease	Score	Top Affiliating Genes
1	myopathy, myofibrillar, 4	10.4	MYOT LDB3
2	autosomal recessive limb-girdle muscular dystrophy type 2q	10.4	PLEC MYOT
3	alexander disease	10.3	PLEC CRYAB
4	autosomal dominant limb-girdle muscular dystrophy	10.3	MYOT FLNC
5	cardiomyopathy, dilated, 1b	10.2	LDB3 DMD
6	muscular dystrophy, limb-girdle, autosomal recessive 7	10.2	MYOT DMD
7	muscular dystrophy, congenital, 1b	10.2	LDB3 DMD
8	cardiomyopathy, dilated, 1d	10.1	LDB3 DMD
9	myopathy, myofibrillar, 3	10.1	MYOT LDB3 FLNC
10	cardiomyopathy, dilated, 1a	10.1	LDB3 DMD
11	myopathy, tubular aggregate, 1	10.1	FLNC ACTA1
12	restrictive cardiomyopathy	10.0	FLNC CRYAB ACTA1
13	familial isolated dilated cardiomyopathy	10.0	LDB3 DMD CRYAB
14	miyoshi muscular dystrophy	10.0	MYOT DMD
15	myopathy, myofibrillar, 1	9.9	MYOT LDB3 FLNC CRYAB
16	myopathy, spheroid body	9.9	MYOT LDB3 FLNC CRYAB
17	rigid spine muscular dystrophy 1	9.8	DMD ACTA1
18	pick disease of brain	9.6	CRYAB APP
19	dilated cardiomyopathy	9.6	LDB3 FLNC DMD CRYAB
20	limb-girdle muscular dystrophy	9.6	PLEC MYOT FLNC DMD
21	myopathy	9.6	MYOT LDB3 FLNC CRYAB ACTA1
22	muscular dystrophy	9.3	PLEC MYOT FLNC DMD ACTA1
23	myofibrillar myopathy	9.1	MYOT LDB3 FLNC DMD CRYAB ACTA1
24	muscular disease	9.0	PLEC MYOT LDB3 FLNC DMD ACTA1

Graphical network of the top 20 diseases related to Myopathy, Myofibrillar, 2:

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Symptoms & Phenotypes for Myopathy, Myofibrillar, 2

Human phenotypes related to Myopathy, Myofibrillar, 2:

⁵⁹ ³² (show all 30)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	dysphonia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001618
2	dysphagia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002015
3	progressive distal muscle weakness ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0009063
4	emg: myopathic abnormalities ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003458
5	hyporeflexia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001265
6	axial muscle weakness ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003327
7	limb-girdle muscle weakness ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003325
8	increased variability in muscle fiber diameter ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003557
9	foot dorsiflexor weakness ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0009027
10	neck muscle weakness ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000467
11	autophagic vacuoles ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003736
12	accumulation of muscle fiber desmin ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0030225
13	posterior capsular cataract ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0100020
14	muscle fiber inclusion bodies ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0100299
15	abnormal circulating creatine kinase concentration ³²	frequent (33%)		HP:0040081
16	respiratory insufficiency due to muscle weakness ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002747
17	cardiomyopathy ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001638
18	muscle stiffness ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0003552
19	difficulty walking ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002355
20	facial diplegia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001349
21	progressive proximal muscle weakness ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0009073
22	cataract ³²			HP:0000518
23	hypertrophic cardiomyopathy ³²			HP:0001639
24	abnormal levels of creatine kinase in blood ⁵⁹		Frequent (79-30%)
25	late-onset proximal muscle weakness ³²			HP:0003694
26	muscular dystrophy ³²			HP:0003560
27	distal muscle weakness ³²			HP:0002460
28	muscle fiber splitting ³²			HP:0003555
29	decreased achilles reflex ³²			HP:0009072
30	elevated serum creatine kinase ³²			HP:0003236

Symptoms via clinical synopsis from OMIM:

⁵⁷

Respiratory:
respiratory insufficiency due to muscle weakness

Head And Neck Eyes:
cataracts

Cardiovascular Heart:
cardiomyopathy, hypertrophic

Muscle Soft Tissue:
limb-girdle muscle weakness
neck muscle weakness
autophagic vacuoles
foot drop
emg shows myopathic changes
more

Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM:

608810

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 2:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	9.17	ACTA1 APP CRYAB DMD FLNC LDB3

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Drugs & Therapeutics for Myopathy, Myofibrillar, 2

Search Clinical Trials , NIH Clinical Center for Myopathy, Myofibrillar, 2

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Genetic Tests for Myopathy, Myofibrillar, 2

Genetic tests related to Myopathy, Myofibrillar, 2:

#	Genetic test	Affiliating Genes
1	Alpha-B Crystallinopathy ²⁹	CRYAB

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Anatomical Context for Myopathy, Myofibrillar, 2

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Publications for Myopathy, Myofibrillar, 2

Articles related to Myopathy, Myofibrillar, 2:

(show all 16)

#	Title	Authors	PMID	Year
1	A novel CRYAB mutation resulting in multisystemic disease. ⁸ ⁷¹	Sacconi S...Urtizberea A	21920752	2012
2	Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. ⁸ ⁷¹	Selcen D...Engel AG	14681890	2003
3	A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. ⁸ ⁷¹	Vicart P...Fardeau M	9731540	1998
4	[A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)]. ⁸ ⁷¹	Fardeau M...Vernant P	570292	1978
5	Pharmacological chaperone for α-crystallin partially restores transparency in cataract models. ⁷¹	Makley LN...Gestwicki JE	26542570	2015
6	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. ⁷¹	Narayanaswami P...Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine	25313375	2014
7	BAG3-related myofibrillar myopathy in a Chinese family. ⁷¹	Lee HC...Mak CM	21361913	2012
8	Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy. ⁷¹	Del Bigio MR...Selcen D	21337604	2011
9	Alpha B-crystallin mutation in dilated cardiomyopathy. ⁷¹	Inagaki N...Kimura A	16483541	2006
10	Myofibrillar Myopathy ⁷¹	Selcen D...Engel AG	20301672	2005
11	Distinct chaperone mechanisms can delay the formation of aggresomes by the myopathy-causing R120G alphaB-crystallin mutant. ⁷¹	Chavez Zobel AT...Landry J	12812987	2003
12	Alteration of protein-protein interactions of congenital cataract crystallin mutants. ⁷¹	Fu L...Liang JJ	12601044	2003
13	Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. ⁸	Vicart P...Paulin D	8792816	1996
14	Autosomal recessive, fatal infantile hypertonic muscular dystrophy among Canadian Natives. ⁷¹	Lacson AG...Kuhn S	8000975	1994
15	Mapping of additional markers in fission yeast, especially fus1 and three mfm genes. ³⁸	Egel R	8001176	1994
16	Analysis of the structural genes encoding M-factor in the fission yeast Schizosaccharomyces pombe: identification of a third gene, mfm3. ³⁸	Kjaerulff S...Nielsen O	8196631	1994

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Genes for Myopathy, Myofibrillar, 2

Genes related to Myopathy, Myofibrillar, 2 (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CRYAB	Crystallin Alpha B	Protein Coding	1682.48	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁴ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	8000975 12812987 12601044 (more) 25313375 570292 26542570 16483541 9731540 20301672 21920752 14681890 21337604
2	MYOT	Myotilin	Protein Coding	16.66	DISEASES inferred ¹⁵
3	LDB3	LIM Domain Binding 3	Protein Coding	15.95	DISEASES inferred ¹⁵
4	PLEC	Plectin	Protein Coding	15.15	DISEASES inferred ¹⁵
5	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	14.82	DISEASES inferred ¹⁵
6	GSN	Gelsolin	Protein Coding	14.62	DISEASES inferred ¹⁵
7	FLNC	Filamin C	Protein Coding	14.36	DISEASES inferred ¹⁵
8	NES	Nestin	Protein Coding	14.1	DISEASES inferred ¹⁵
9	DMD	Dystrophin	Protein Coding	13.89	DISEASES inferred ¹⁵
10	APP	Amyloid Beta Precursor Protein	Protein Coding	13.22	DISEASES inferred ¹⁵
11	SYNPO2	Synaptopodin 2	Protein Coding	6.31	DISEASES inferred ¹⁵
12	GZMM	Granzyme M	Protein Coding	5.38	DISEASES inferred ¹⁵

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Variations for Myopathy, Myofibrillar, 2

ClinVar genetic disease variations for Myopathy, Myofibrillar, 2:

⁶ (show all 19)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	CRYAB	NM_001885.3(CRYAB): c.358A> G (p.Arg120Gly)	single nucleotide variant	Pathogenic	rs104894201	11:111779658-111779658	11:111908934-111908934
2	CRYAB	NM_001885.3(CRYAB): c.464_465del (p.Pro155fs)	deletion	Pathogenic		11:111779551-111779552	11:111908827-111908828
3	CRYAB	NM_001885.3(CRYAB): c.451C> T (p.Gln151Ter)	single nucleotide variant	Pathogenic	rs104894202	11:111779565-111779565	11:111908841-111908841
4	CRYAB	NM_001885.3(CRYAB): c.60del (p.Ser21fs)	deletion	Pathogenic	rs281865141	11:111782389-111782389	11:111911665-111911665
5	CRYAB	NM_001885.3(CRYAB): c.325G> C (p.Asp109His)	single nucleotide variant	Pathogenic	rs387907339	11:111779691-111779691	11:111908967-111908967
6	CRYAB	NM_001885.3(CRYAB): c.343del (p.Ser115fs)	deletion	Pathogenic/Likely pathogenic	rs281865142	11:111779673-111779673	11:111908949-111908949
7	CRYAB	NM_001885.3(CRYAB): c.460G> A (p.Gly154Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150516929	11:111779556-111779556	11:111908832-111908832
8	CRYAB	NM_001885.3(CRYAB): c.152C> T (p.Pro51Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2234704	11:111782297-111782297	11:111911573-111911573
9	CRYAB	NM_001885.3(CRYAB): c.116C> T (p.Pro39Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149787233	11:111782333-111782333	11:111911609-111911609
10	CRYAB	NM_001885.3(CRYAB): c.*107A> G	single nucleotide variant	Uncertain significance	rs886047686	11:111779381-111779381	11:111908657-111908657
11	CRYAB	NM_001885.3(CRYAB): c.*39T> C	single nucleotide variant	Uncertain significance	rs782808506	11:111779449-111779449	11:111908725-111908725
12	CRYAB	NM_001885.3(CRYAB): c.102G> T (p.Glu34Asp)	single nucleotide variant	Uncertain significance	rs886047688	11:111782347-111782347	11:111911623-111911623
13	CRYAB	NM_001885.3(CRYAB): c.375A> C (p.Pro125=)	single nucleotide variant	Uncertain significance	rs886047687	11:111779641-111779641	11:111908917-111908917
14	CRYAB	NM_001885.3(CRYAB): c.*38G> C	single nucleotide variant	Uncertain significance	rs781853968	11:111779450-111779450	11:111908726-111908726
15	CRYAB	NM_001885.3(CRYAB): c.115C> G (p.Pro39Ala)	single nucleotide variant	Uncertain significance		11:111782334-111782334	11:111911610-111911610
16	CRYAB	NM_001885.3(CRYAB): c.-21C> T	single nucleotide variant	Benign/Likely benign	rs376222434	11:111782469-111782469	11:111911745-111911745
17	CRYAB	NM_001885.3(CRYAB): c.165G> A (p.Leu55=)	single nucleotide variant	Benign	rs2228387	11:111782284-111782284	11:111911560-111911560
18	CRYAB	NM_001885.3(CRYAB): c.324+4T> G	single nucleotide variant	Benign	rs11603779	11:111781047-111781047	11:111910323-111910323
19	CRYAB	NM_001885.3(CRYAB): c.60C> T (p.Pro20=)	single nucleotide variant	Benign	rs4252582	11:111782389-111782389	11:111911665-111911665

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 2:

⁷⁴

#	Symbol	AA change	Variation ID	SNP ID
1	CRYAB	p.Arg120Gly	VAR_007899	rs104894201
2	CRYAB	p.Asp109His	VAR_069528	rs387907339

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Expression for Myopathy, Myofibrillar, 2

Search GEO for disease gene expression data for Myopathy, Myofibrillar, 2.

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Pathways for Myopathy, Myofibrillar, 2

Pathways related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Apoptosis and survival Caspase cascade ²² Show member pathways Apoptosis and survival FAS signaling cascades ²² Breakdown of the nuclear lamina ⁶⁶ Caspase cascade in apoptosis ¹ Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation ¹ FasL/ CD95L signaling ⁶⁶ Influenza A virus infection ¹	11.59	GSN APP ACTA1
2	Cytoskeletal Signaling ⁴	11.41	PLEC GSN FLNC ACTA1
3	Muscular Dystrophies and Dystrophin-Glycoprotein Complex ⁶⁴	10.23	DMD ACTA1

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GO Terms for Myopathy, Myofibrillar, 2

Cellular components related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	perinuclear region of cytoplasm	GO:0048471	9.83	PLEC LDB3 GSN DMD APP
2	focal adhesion	GO:0005925	9.8	SYNPO2 PLEC GSN FLNC
3	axon	GO:0030424	9.78	MYOT DMD CRYAB APP
4	cytoskeleton	GO:0005856	9.76	SYNPO2 PLEC MYOT LDB3 GSN FLNC
5	actin cytoskeleton	GO:0015629	9.71	SYNPO2 MYOT GSN ACTA1
6	lamellipodium	GO:0030027	9.7	GSN DMD ACTA1
7	sarcolemma	GO:0042383	9.62	PLEC MYOT FLNC DMD
8	intermediate filament cytoskeleton	GO:0045111	9.54	PLEC NES
9	contractile fiber	GO:0043292	9.51	PLEC CRYAB
10	astrocyte projection	GO:0097449	9.46	DMD APP
11	costamere	GO:0043034	9.43	PLEC FLNC DMD
12	sarcoplasm	GO:0016528	9.13	PLEC GSN FLNC
13	Z disc	GO:0030018	9.1	SYNPO2 MYOT LDB3 FLNC DMD CRYAB
14	cytoplasm	GO:0005737	10.11	SYNPO2 PLEC NES MYOT LDB3 GSN

Biological processes related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	aging	GO:0007568	9.43	GSN DMD CRYAB
2	synapse organization	GO:0050808	9.37	MYOT APP
3	muscle contraction	GO:0006936	9.33	MYOT CRYAB ACTA1
4	muscle filament sliding	GO:0030049	9.32	DMD ACTA1
5	muscle fiber development	GO:0048747	8.96	FLNC DMD
6	amyloid fibril formation	GO:1990000	8.62	GSN APP

Molecular functions related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	myosin binding	GO:0017022	9.43	DMD ACTA1
2	structural constituent of cytoskeleton	GO:0005200	9.43	PLEC DMD ACTA1
3	ankyrin binding	GO:0030506	9.4	PLEC FLNC
4	alpha-actinin binding	GO:0051393	9.37	SYNPO2 MYOT
5	actin binding	GO:0003779	9.35	SYNPO2 PLEC MYOT GSN DMD
6	structural constituent of muscle	GO:0008307	9.33	PLEC MYOT DMD
7	muscle alpha-actinin binding	GO:0051371	9.32	SYNPO2 LDB3
8	cytoskeletal protein binding	GO:0008092	8.92	PLEC LDB3 FLNC CRYAB
9	protein binding	GO:0005515	10.2	SYNPO2 PLEC MYOT LDB3 GZMM GSN

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Sources for Myopathy, Myofibrillar, 2

¹ BioSystems

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³ CDC

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²⁰ GeneAnalytics

²¹ GeneCards

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²³ GeneHancer via GeneCards

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²⁶ GenomeRNAi

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²⁸ GO

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³³ ICD10

³⁴ ICD10 via Orphanet

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³⁷ KEGG

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⁴¹ MalaCards

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⁴⁵ MESH via Orphanet

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Myopathy, Myofibrillar, 2 (MFM2)

Aliases & Classifications for Myopathy, Myofibrillar, 2

MalaCards integrated aliases for Myopathy, Myofibrillar, 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Myopathy, Myofibrillar, 2

Related Diseases for Myopathy, Myofibrillar, 2

Diseases in the Myofibrillar Myopathy family:

Diseases related to Myopathy, Myofibrillar, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Myopathy, Myofibrillar, 2:

Symptoms & Phenotypes for Myopathy, Myofibrillar, 2

Human phenotypes related to Myopathy, Myofibrillar, 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 2:

Drugs & Therapeutics for Myopathy, Myofibrillar, 2

Genetic Tests for Myopathy, Myofibrillar, 2

Genetic tests related to Myopathy, Myofibrillar, 2:

Anatomical Context for Myopathy, Myofibrillar, 2

Publications for Myopathy, Myofibrillar, 2

Articles related to Myopathy, Myofibrillar, 2:

Genes for Myopathy, Myofibrillar, 2

Genes related to Myopathy, Myofibrillar, 2 (1 elite genes):

Variations for Myopathy, Myofibrillar, 2

ClinVar genetic disease variations for Myopathy, Myofibrillar, 2:

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 2:

Expression for Myopathy, Myofibrillar, 2

Pathways for Myopathy, Myofibrillar, 2

Pathways related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

GO Terms for Myopathy, Myofibrillar, 2

Cellular components related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

Biological processes related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

Molecular functions related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

Sources for Myopathy, Myofibrillar, 2