Myopathy mutation missense. Medical search. Frequent questions

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Anatomy15

Muscle, Skeletal Cell Line Muscle Fibers, Skeletal Muscles Mitochondria, Muscle COS Cells X Chromosome Cells, Cultured Myofibrils Fibroblasts Mitochondria Inclusion Bodies Filamins HEK293 Cells HeLa Cells

Organisms9

Escherichia coli Saccharomyces cerevisiae Mice, Transgenic Mice, Mutant Strains Cercopithecus aethiops Mice, Inbred C57BL Zebrafish Mice, Knockout Cricetinae

Diseases62

Muscular Diseases Myopathies, Nemaline Myopathies, Structural, Congenital Distal Myopathies Mitochondrial Myopathies Myositis Myositis, Inclusion Body Muscle Weakness Myopathy, Central Core Muscular Dystrophies Syndrome MELAS Syndrome Muscular Dystrophies, Limb-Girdle Genetic Diseases, X-Linked Neuromuscular Diseases Genetic Predisposition to Disease Muscle Hypotonia Abnormalities, Multiple Osteitis Deformans Intestinal Pseudo-Obstruction Acidosis, Lactic Glycogen Storage Disease Type IIb Polymyositis Ophthalmoplegia Mitochondrial Encephalomyopathies Muscular Atrophy Rhabdomyolysis Mitochondrial Diseases Contracture Disease Models, Animal Retinitis Pigmentosa Cytochrome-c Oxidase Deficiency Eye Abnormalities Glycogen Storage Disease Dermatomyositis Osteochondrodysplasias Cardiomyopathies Vitamin E Deficiency Cardiomyopathy, Hypertrophic Myotonia Anemia, Sideroblastic Cerebellar Ataxia Cardiomyopathy, Dilated Myoglobinuria Lipid Metabolism, Inborn Errors Kearns-Sayre Syndrome Glycogen Storage Disease Type VII Charcot-Marie-Tooth Disease Hearing Loss, Sensorineural Genetic Diseases, Inborn Ophthalmoplegia, Chronic Progressive External Polyneuropathies MERRF Syndrome Cataract Myasthenic Syndromes, Congenital Deafness Frontotemporal Dementia Chromosome Deletion Mental Retardation, X-Linked Ataxia Intellectual Disability Ectodermal Dysplasia

Chemicals and Drugs60

Codon, Nonsense Protein Tyrosine Phosphatases, Non-Receptor DNA Primers DNA, Mitochondrial Mutant Proteins Codon DNA-Binding Proteins Membrane Proteins Transcription Factors RNA, Transfer, Leu Muscle Proteins DNA Desmin Nuclear Proteins Carrier Proteins RNA, Messenger Creatine Kinase Collagen Type VI RNA Splice Sites Bacterial Proteins Dynamin II Eye Proteins DNA, Neoplasm Adenosine Triphosphatases Recombinant Proteins Proteins Genetic Markers DNA, Complementary Ethylnitrosourea Proto-Oncogene Proteins B-raf NADH Tetrazolium Reductase Myosin Heavy Chains Cofilin 2 Recombinant Fusion Proteins Proto-Oncogene Proteins Tumor Suppressor Protein p53 Saccharomyces cerevisiae Proteins Succinate Dehydrogenase Repressor Proteins Arginine Mutagens alpha-Crystallin B Chain Adaptor Proteins, Signal Transducing BRCA2 Protein Cell Cycle Proteins Tumor Suppressor Proteins Filamins Fungal Proteins Dystrophin BRCA1 Protein Trans-Activators Codon, Terminator Nerve Tissue Proteins Protein Isoforms Drosophila Proteins Glycine Escherichia coli Proteins Cytoskeletal Proteins Multienzyme Complexes Homeodomain Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Pedigree DNA Mutational Analysis Amino Acid Substitution Polymerase Chain Reaction Sequence Analysis, DNA Mutagenesis, Site-Directed Genetic Testing Chromosome Mapping Models, Molecular Sequence Alignment Genetic Complementation Test Transfection Heterozygote Detection Cloning, Molecular Biopsy Models, Genetic Genetic Association Studies Disease Models, Animal Reverse Transcriptase Polymerase Chain Reaction Mutagenesis, Insertional Immunohistochemistry Blotting, Western Crosses, Genetic Microscopy, Electron Case-Control Studies Restriction Mapping Electromyography Models, Biological

Psychiatry and Psychology3

Family Frontotemporal Dementia Intellectual Disability

Phenomena and Processes83

Mutation, Missense Point Mutation Mutation Frameshift Mutation Germ-Line Mutation Exons Base Sequence Heterozygote Amino Acid Substitution Amino Acid Sequence Phenotype Polymorphism, Single-Stranded Conformational Codon, Nonsense Homozygote Alleles Genes, Recessive Mutation Rate Genes, Dominant Genotype Sequence Deletion Consanguinity Protein Structure, Tertiary Genetic Linkage Mutagenesis Sequence Homology, Amino Acid Suppression, Genetic Codon Genetic Predisposition to Disease Gene Deletion Founder Effect Binding Sites Protein Binding Genes, p53 Transfection Polymorphism, Genetic Introns Genetic Variation Exome Polymorphism, Single Nucleotide Gene Frequency Microsatellite Repeats Genetic Heterogeneity X Chromosome RNA Splice Sites Protein Conformation Plasmids RNA Splicing Genes, BRCA1 Transcription, Genetic Conserved Sequence Genes, Lethal Mutagenesis, Insertional Signal Transduction Promoter Regions, Genetic Polymorphism, Restriction Fragment Length Genetic Markers Structure-Activity Relationship Gene Expression Protein Structure, Secondary Penetrance Kinetics Genes, Bacterial Genes Genes, Suppressor Gene Expression Regulation Recombination, Genetic Genes, BRCA2 Temperature Protein Transport INDEL Mutation Alternative Splicing Evolution, Molecular Drug Resistance, Viral Genes, X-Linked Genes, Fungal Lod Score DNA Repair Loss of Heterozygosity Selection, Genetic Codon, Terminator Protein Folding Phosphorylation Chromosome Deletion

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups3

Jews Infant, Newborn Asian Continental Ancestry Group

Health Care5

Genetic Testing Family Health Age of Onset Temperature Case-Control Studies

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Anthropology, Education, Sociology and Social Phenomena Information Science Named Groups Health Care

Mutation, Missense Muscular Diseases Point Mutation Mutation Myopathies, Nemaline Pedigree Myopathies, Structural, Congenital Frameshift Mutation Distal Myopathies Mitochondrial Myopathies Germ-Line Mutation DNA Mutational Analysis Exons Molecular Sequence Data Base Sequence Heterozygote Myositis Amino Acid Substitution Myositis, Inclusion Body Amino Acid Sequence Phenotype Muscle Weakness Polymorphism, Single-Stranded Conformational Codon, Nonsense Homozygote Myopathy, Central Core Alleles Genes, Recessive Muscle, Skeletal Polymerase Chain Reaction Mutation Rate Genes, Dominant Genotype Muscular Dystrophies Sequence Analysis, DNA Syndrome MELAS Syndrome Mutagenesis, Site-Directed Sequence Deletion Consanguinity Protein Structure, Tertiary Genetic Linkage Genetic Testing Muscular Dystrophies, Limb-Girdle Mutagenesis Protein Tyrosine Phosphatases, Non-Receptor Chromosome Mapping DNA Primers Genetic Diseases, X-Linked DNA, Mitochondrial Neuromuscular Diseases Models, Molecular Sequence Homology, Amino Acid Family Health Cell Line Suppression, Genetic Mutant Proteins Codon Genetic Predisposition to Disease Sequence Alignment Gene Deletion DNA-Binding Proteins Membrane Proteins Escherichia coli Muscle Hypotonia Muscle Fibers, Skeletal Founder Effect Age of Onset Binding Sites Transcription Factors RNA, Transfer, Leu Muscle Proteins Protein Binding DNA Genes, p53 Genetic Complementation Test Muscles Abnormalities, Multiple Transfection Heterozygote Detection Desmin Osteitis Deformans Polymorphism, Genetic Intestinal Pseudo-Obstruction Acidosis, Lactic Mitochondria, Muscle Cloning, Molecular Introns Glycogen Storage Disease Type IIb Biopsy Genetic Variation Nuclear Proteins Carrier Proteins Models, Genetic RNA, Messenger Polymyositis Ophthalmoplegia COS Cells Creatine Kinase Exome

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