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Aliases for FKTN Gene

Aliases for FKTN Gene

  • Fukutin 2 3 3 5
  • FCMD 3 4
  • Fukuyama Type Congenital Muscular Dystrophy (Fukutin) 2
  • Fukuyama Type Congenital Muscular Dystrophy Protein 3
  • Fukuyama-Type Congenital Muscular Dystrophy Protein 4
  • Patient Fukutin 3
  • EC 2.-.-.- 4
  • LGMD2M 3
  • MDDGA4 3
  • MDDGB4 3
  • MDDGC4 3
  • CMD1X 3

External Ids for FKTN Gene

Previous HGNC Symbols for FKTN Gene

  • FCMD

Previous GeneCards Identifiers for FKTN Gene

  • GC09P107255
  • GC09P107361
  • GC09P108320
  • GC09P077921

Summaries for FKTN Gene

Entrez Gene Summary for FKTN Gene

  • The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]

GeneCards Summary for FKTN Gene

FKTN (Fukutin) is a Protein Coding gene. Diseases associated with FKTN include Muscular Dystrophy-Dystroglycanopathy , Type A, 4 and Muscular Dystrophy-Dystroglycanopathy , Type C, 4. Among its related pathways are Mannose type O-glycan biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity.

UniProtKB/Swiss-Prot for FKTN Gene

  • Glycosyltransferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development.

Gene Wiki entry for FKTN Gene

Additional gene information for FKTN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FKTN Gene

Genomics for FKTN Gene

GeneHancer (GH) Regulatory Elements for FKTN Gene

Promoters and enhancers for FKTN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J105557 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.1 82 1.6 HDGF ATF1 SMAD1 ARID4B SIN3A DMAP1 ZNF48 YY1 ETS1 POLR2B FKTN LOC105376199 FSD1L
GH09J105242 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.1 -313.4 -313385 4.7 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SLC44A1 RALGAPA1P1 FKTN FSD1L
GH09J105063 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13 -493.0 -492957 3.7 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 YY1 ZNF207 ZNF143 FOS ABCA1 RALGAPA1P1 FKTN ENSG00000230013 NIPSNAP3A FSD1L LOC105376197
GH09J104763 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 10.5 -793.9 -793865 2 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF48 POLR2B ZNF766 GLIS2 ZNF213 NIPSNAP3B NIPSNAP3A RALGAPA1P1 FKTN GC09P104774
GH09J105446 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 6.8 -109.7 -109684 2.9 HDGF PKNOX1 MLX ARID4B SIN3A POLR2B CBX5 ZNF207 ZNF143 MXD4 FSD1L FKTN RALGAPA1P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FKTN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FKTN gene promoter:
  • deltaCREB
  • CREB
  • C/EBPbeta
  • AML1a
  • S8
  • FAC1
  • TFIID
  • TBP
  • POU2F1
  • POU2F1a

Genomic Locations for FKTN Gene

Genomic Locations for FKTN Gene
chr9:105,558,119-105,641,118
(GRCh38/hg38)
Size:
83,000 bases
Orientation:
Plus strand
chr9:108,320,411-108,403,399
(GRCh37/hg19)
Size:
82,989 bases
Orientation:
Plus strand

Genomic View for FKTN Gene

Genes around FKTN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FKTN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FKTN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FKTN Gene

Proteins for FKTN Gene

  • Protein details for FKTN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75072-FKTN_HUMAN
    Recommended name:
    Fukutin
    Protein Accession:
    O75072
    Secondary Accessions:
    • B4DUX9
    • J3KP13
    • Q3MIJ1
    • Q96TE1
    • Q9P295

    Protein attributes for FKTN Gene

    Size:
    461 amino acids
    Molecular mass:
    53724 Da
    Quaternary structure:
    • Interacts (via transmembrane domain) with POMGNT1; the interaction is direct and is required for normal POMGNT1 location in Golgi membranes.

    Alternative splice isoforms for FKTN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FKTN Gene

Post-translational modifications for FKTN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FKTN Gene

Domains & Families for FKTN Gene

Gene Families for FKTN Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for FKTN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FKTN Gene

Graphical View of Domain Structure for InterPro Entry

O75072

UniProtKB/Swiss-Prot:

FKTN_HUMAN :
  • Belongs to the LicD transferase family.
Family:
  • Belongs to the LicD transferase family.
genes like me logo Genes that share domains with FKTN: view

Function for FKTN Gene

Molecular function for FKTN Gene

UniProtKB/Swiss-Prot Function:
Glycosyltransferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development.

Enzyme Numbers (IUBMB) for FKTN Gene

Phenotypes From GWAS Catalog for FKTN Gene

Gene Ontology (GO) - Molecular Function for FKTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with FKTN: view
genes like me logo Genes that share phenotypes with FKTN: view

Human Phenotype Ontology for FKTN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FKTN Gene

MGI Knock Outs for FKTN:
  • Fktn Fktn<tm1Ttd>
  • Fktn Fktn<tm1.2Kcam>

Animal Model Products

miRNA for FKTN Gene

miRTarBase miRNAs that target FKTN

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for FKTN Gene

Localization for FKTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for FKTN Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FKTN gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
nucleus 4
plasma membrane 2
mitochondrion 2
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for FKTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005615 extracellular space TAS 9690476
GO:0005634 nucleus IDA 18808525
GO:0005783 endoplasmic reticulum IDA 18808525
GO:0005794 Golgi apparatus IDA,IEA 18808525
genes like me logo Genes that share ontologies with FKTN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FKTN Gene

Pathways & Interactions for FKTN Gene

genes like me logo Genes that share pathways with FKTN: view

Pathways by source for FKTN Gene

UniProtKB/Swiss-Prot O75072-FKTN_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for FKTN Gene

Gene Ontology (GO) - Biological Process for FKTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0007399 nervous system development TAS 9690476
GO:0007517 muscle organ development TAS 9690476
GO:0008285 negative regulation of cell proliferation IMP 18808525
GO:0035269 protein O-linked mannosylation IMP 25279699
genes like me logo Genes that share ontologies with FKTN: view

No data available for SIGNOR curated interactions for FKTN Gene

Drugs & Compounds for FKTN Gene

(1) Drugs for FKTN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with FKTN: view

Transcripts for FKTN Gene

Unigene Clusters for FKTN Gene

Fukutin:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FKTN Gene

No ASD Table

Relevant External Links for FKTN Gene

GeneLoc Exon Structure for
FKTN
ECgene alternative splicing isoforms for
FKTN

Expression for FKTN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FKTN Gene

Protein differential expression in normal tissues from HIPED for FKTN Gene

This gene is overexpressed in Fetal Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FKTN Gene



Protein tissue co-expression partners for FKTN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FKTN Gene:

FKTN

SOURCE GeneReport for Unigene cluster for FKTN Gene:

Hs.55777

mRNA Expression by UniProt/SwissProt for FKTN Gene:

O75072-FKTN_HUMAN
Tissue specificity: Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle. Expressed at similar levels in control fetal and adult brain, but is much reduced in Fukuyama-type congenital dystrophy (FCMD) brains. Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells. No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells. In the FCMD brain, neurons in regions with no dysplasia show fair expression, whereas transcripts are nearly undetectable in the overmigrated dysplastic region.

Evidence on tissue expression from TISSUES for FKTN Gene

  • Nervous system(4.5)
  • Intestine(4.2)
  • Muscle(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FKTN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tongue
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with FKTN: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for FKTN Gene

Orthologs for FKTN Gene

This gene was present in the common ancestor of animals.

Orthologs for FKTN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FKTN 34 33
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FKTN 34 33
  • 92.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FKTN 34
  • 91 (a)
OneToOne
LOC536891 33
  • 90.89 (n)
mouse
(Mus musculus)
Mammalia Fktn 16 34 33
  • 87.56 (n)
rat
(Rattus norvegicus)
Mammalia Fktn 33
  • 85.76 (n)
oppossum
(Monodelphis domestica)
Mammalia FKTN 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FKTN 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves FKTN 34 33
  • 72.96 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FKTN 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fktn 33
  • 68.84 (n)
Str.19568 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15752 33
zebrafish
(Danio rerio)
Actinopterygii fktn 34 33
  • 59.52 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea W02B3.4 34
  • 26 (a)
OneToMany
T07D3.4 34
  • 24 (a)
OneToMany
T07D3.6 34
  • 24 (a)
OneToMany
T07A5.1 34
  • 23 (a)
OneToMany
F28A10.9 34
  • 21 (a)
OneToMany
W02B3.7 34
  • 20 (a)
OneToMany
T07D3.5 34
  • 19 (a)
OneToMany
Y22D7AL.11 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToOne
Cin.8045 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8045 33
Species where no ortholog for FKTN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FKTN Gene

ENSEMBL:
Gene Tree for FKTN (if available)
TreeFam:
Gene Tree for FKTN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FKTN: view image

Paralogs for FKTN Gene

No data available for Paralogs for FKTN Gene

Variants for FKTN Gene

Sequence variations from dbSNP and Humsavar for FKTN Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1027056730 uncertain-significance, Fukuyama congenital muscular dystrophy, Dilated Cardiomyopathy, Recessive 105,638,811(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs1037406947 uncertain-significance, Walker-Warburg congenital muscular dystrophy 105,575,039(+) A/G 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1046137535 uncertain-significance, Fukuyama congenital muscular dystrophy, Dilated Cardiomyopathy, Recessive 105,637,772(+) G/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs1048215 likely-benign, Dilated Cardiomyopathy, Recessive, Fukuyama congenital muscular dystrophy 105,640,882(+) T/A 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs1057516258 likely-pathogenic, Fukuyama congenital muscular dystrophy 105,604,272(+) AAA/AA coding_sequence_variant, frameshift, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for FKTN Gene

Variant ID Type Subtype PubMed ID
esv22929 CNV loss 19812545
esv2678852 CNV deletion 23128226
esv3621359 CNV loss 21293372
esv3891705 CNV loss 25118596
esv3891707 CNV gain 25118596
esv5990 CNV gain 19470904
nsv478494 CNV novel sequence insertion 20440878
nsv519023 CNV gain 19592680

Variation tolerance for FKTN Gene

Residual Variation Intolerance Score: 57.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.40; 85.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FKTN Gene

Human Gene Mutation Database (HGMD)
FKTN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FKTN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FKTN Gene

Disorders for FKTN Gene

MalaCards: The human disease database

(25) MalaCards diseases for FKTN Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FKTN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FKTN_HUMAN
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) [MIM:253800]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269 PubMed:10545611, ECO:0000269 PubMed:17034757, ECO:0000269 PubMed:19179078, ECO:0000269 PubMed:22958903, ECO:0000269 PubMed:24530477}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4) [MIM:613152]: An autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI, and absence of mental retardation. {ECO:0000269 PubMed:14627679, ECO:0000269 PubMed:18177472, ECO:0000269 PubMed:19179078, ECO:0000269 PubMed:19299310}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) [MIM:611588]: An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles, and elevated serum creatine kinase. MDDGC4 has no brain involvement and a remarkable clinical response to corticosteroids. {ECO:0000269 PubMed:17044012, ECO:0000269 PubMed:19342235}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1X (CMD1X) [MIM:611615]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:17036286}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FKTN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FKTN: view

No data available for Genatlas for FKTN Gene

Publications for FKTN Gene

  1. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PMID: 19299310) Mercuri E … Bertini E (Neurology 2009) 3 4 22 44 58
  2. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. (PMID: 17036286) Murakami T … Nishino I (Annals of neurology 2006) 2 3 4 22 58
  3. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. (PMID: 17044012) Godfrey C … Muntoni F (Annals of neurology 2006) 2 3 4 22 58
  4. Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy. (PMID: 19015585) Arimura T … Kimura A (Circulation journal : official journal of the Japanese Circulation Society 2009) 3 22 44 58
  5. Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. (PMID: 19179078) Vuillaumier-Barrot S … Seta N (Neuromuscular disorders : NMD 2009) 3 4 22 58

Products for FKTN Gene

Sources for FKTN Gene

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