Mutation genetic autosomal recessive form muscular dystrophies. Medical search. Frequent questions

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Anatomy22

Muscle, Skeletal X Chromosome Sarcolemma Chromosomes, Human, Pair 4 Muscles Muscle Fibers, Skeletal Myoblasts Cell Line Chromosomes, Human, Pair 2 Cells, Cultured Fundus Oculi Mitochondria Chromosomes, Human, Pair 1 Fibroblasts Chromosomes, Human, Pair 19 Diaphragm Satellite Cells, Skeletal Muscle COS Cells Chromosomes, Human, Pair 5 Muscle Cells Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 6

Organisms8

Mice, Inbred mdx Mice, Mutant Strains Mice, Inbred C57BL Mice, Transgenic Mice, Knockout Dependovirus Dogs Zebrafish

Diseases82

Muscular Dystrophies Muscular Dystrophy, Duchenne Muscular Dystrophy, Animal Muscular Dystrophies, Limb-Girdle Myotonic Dystrophy Granulomatous Disease, Chronic Muscular Dystrophy, Facioscapulohumeral Spastic Paraplegia, Hereditary Syndrome Muscular Dystrophy, Emery-Dreifuss Immunologic Deficiency Syndromes Corneal Dystrophies, Hereditary Muscular Dystrophy, Oculopharyngeal Parkinson Disease Abnormalities, Multiple Arthrogryposis Dysostoses Fuchs' Endothelial Dystrophy Retinal Dystrophies Polycystic Kidney, Autosomal Recessive Hearing Loss, Sensorineural Ectodermal Dysplasia Retinitis Pigmentosa Deafness Charcot-Marie-Tooth Disease Osteogenesis Imperfecta Muscular Diseases Disease Models, Animal Intellectual Disability Microcephaly Neuromuscular Diseases Neuroaxonal Dystrophies Hypotrichosis Walker-Warburg Syndrome Ichthyosis Retinal Degeneration Cardiomyopathies Vitelliform Macular Dystrophy Sarcoglycanopathies Ichthyosiform Erythroderma, Congenital Eye Diseases, Hereditary Muscle Weakness Eye Abnormalities Genetic Predisposition to Disease Osteochondrodysplasias Chromosome Disorders Dwarfism Genetic Diseases, Inborn Ichthyosis, Lamellar Cerebellar Ataxia Nails, Malformed Genetic Diseases, X-Linked Reflex Sympathetic Dystrophy Bone Diseases, Developmental Cardiomyopathy, Dilated Chromosome Deletion Muscular Atrophy Myotonic Disorders Metabolism, Inborn Errors Myositis Albinism, Oculocutaneous Myotonia Congenita Osteopetrosis Microphthalmos Epidermolysis Bullosa Night Blindness Muscular Atrophy, Spinal Distal Myopathies Hearing Loss Foot Deformities, Congenital Hair Diseases Muscle Hypotonia Kidney Diseases, Cystic Leber Congenital Amaurosis Contracture Disease Progression Color Vision Defects Cataract Keratoderma, Palmoplantar Lipodystrophy Tooth Abnormalities Epidermolysis Bullosa Simplex

Chemicals and Drugs45

Dystrophin Sarcoglycans Dystroglycans Genetic Markers Utrophin Codon, Nonsense Thymopoietins Collagen Type VI Collagen Type XI Muscle Proteins Dystrophin-Associated Proteins Membrane Proteins Lamin Type A Creatine Kinase Cytoskeletal Proteins Laminin Ubiquitin-Protein Ligases Caveolin 3 Dystrophin-Associated Protein Complex Poly(A)-Binding Protein II DNA Primers DNA Eye Proteins Calpain RNA, Messenger Plectin Connectin Membrane Glycoproteins Proteins Nuclear Proteins Carrier Proteins RNA Splice Sites DNA-Binding Proteins Mutant Proteins Myostatin Codon, Terminator Nerve Tissue Proteins Lamins Transcription Factors N-Acetylglucosaminyltransferases Mannosyltransferases DNA, Complementary Codon Extracellular Matrix Proteins Morpholinos

Analytical, Diagnostic and Therapeutic Techniques and Equipment29

Pedigree DNA Mutational Analysis Chromosome Mapping Heterozygote Detection Polymerase Chain Reaction Genetic Testing Disease Models, Animal Sequence Analysis, DNA Amino Acid Substitution Electroretinography Genetic Therapy Immunohistochemistry Models, Genetic Blotting, Western Prenatal Diagnosis Mutagenesis, Site-Directed Crosses, Genetic Cloning, Molecular Sequence Alignment Reverse Transcriptase Polymerase Chain Reaction Muscle Strength Biopsy Models, Molecular Genetic Complementation Test Transfection Blotting, Southern Genetic Association Studies Fluorescent Antibody Technique Mutagenesis, Insertional

Psychiatry and Psychology2

Intellectual Disability Family

Phenomena and Processes74

Genes, Recessive Consanguinity Mutation Mutation, Missense Genetic Linkage Homozygote Exons Lod Score Heterozygote Phenotype Point Mutation Base Sequence Haplotypes Genetic Markers Amino Acid Sequence Genes, Dominant Frameshift Mutation Codon, Nonsense X Chromosome Genotype Alleles Microsatellite Repeats Polymorphism, Single-Stranded Conformational Chromosomes, Human, Pair 4 Germ-Line Mutation Founder Effect Sequence Deletion Amino Acid Substitution Gene Deletion Exome Genetic Heterogeneity Mutation Rate Protein Structure, Tertiary Sequence Homology, Amino Acid Introns Polymorphism, Genetic Chromosomes, Human, Pair 2 Genetic Predisposition to Disease Mutagenesis Muscle Development Polymorphism, Restriction Fragment Length Regeneration Chromosomes, Human, Pair 1 RNA Splice Sites Chromosomes, Human, Pair 19 Gene Expression Regulation Glycosylation Protein Binding RNA Splicing Gene Frequency Muscle Strength Genes, Lethal Chromosome Deletion Gene Expression Alternative Splicing Codon, Terminator Mosaicism Transfection Polymorphism, Single Nucleotide Binding Sites Recombination, Genetic Codon Genetic Variation Trinucleotide Repeat Expansion Suppression, Genetic Chromosomes, Human, Pair 5 Genetic Vectors Genes Signal Transduction Chromosomes, Human, Pair 10 Penetrance Transcription, Genetic Chromosomes, Human, Pair 6 Mutagenesis, Insertional

Disciplines and Occupations2

Immunohistochemistry Genetic Counseling

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups4

Infant, Newborn Jews Arabs Asian Continental Ancestry Group

Health Care4

Family Health Genetic Testing Age of Onset Genetic Counseling

Geographicals2

Pakistan Tunisia

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 Geographicals

Genes, Recessive Muscular Dystrophies Muscular Dystrophy, Duchenne Pedigree Muscular Dystrophy, Animal Consanguinity Mutation Mutation, Missense Dystrophin Genetic Linkage DNA Mutational Analysis Muscular Dystrophies, Limb-Girdle Myotonic Dystrophy Homozygote Granulomatous Disease, Chronic Muscular Dystrophy, Facioscapulohumeral Chromosome Mapping Spastic Paraplegia, Hereditary Exons Lod Score Syndrome Mice, Inbred mdx Heterozygote Muscular Dystrophy, Emery-Dreifuss Phenotype Sarcoglycans Point Mutation Molecular Sequence Data Base Sequence Immunologic Deficiency Syndromes Corneal Dystrophies, Hereditary Haplotypes Dystroglycans Genetic Markers Muscular Dystrophy, Oculopharyngeal Utrophin Amino Acid Sequence Genes, Dominant Muscle, Skeletal Frameshift Mutation Codon, Nonsense Parkinson Disease Abnormalities, Multiple Arthrogryposis X Chromosome Heterozygote Detection Dysostoses Genotype Fuchs' Endothelial Dystrophy Retinal Dystrophies Polycystic Kidney, Autosomal Recessive Hearing Loss, Sensorineural Ectodermal Dysplasia Thymopoietins Collagen Type VI Retinitis Pigmentosa Deafness Family Health Charcot-Marie-Tooth Disease Collagen Type XI Alleles Microsatellite Repeats Polymerase Chain Reaction Muscle Proteins Sarcolemma Osteogenesis Imperfecta Polymorphism, Single-Stranded Conformational Muscular Diseases Dystrophin-Associated Proteins Membrane Proteins Chromosomes, Human, Pair 4 Genetic Testing Lamin Type A Germ-Line Mutation Creatine Kinase Muscles Disease Models, Animal Muscle Fibers, Skeletal Myoblasts Founder Effect Intellectual Disability Cytoskeletal Proteins Laminin Sequence Deletion Ubiquitin-Protein Ligases Microcephaly Caveolin 3 Neuromuscular Diseases Dystrophin-Associated Protein Complex Neuroaxonal Dystrophies Sequence Analysis, DNA Amino Acid Substitution Hypotrichosis Poly(A)-Binding Protein II Age of Onset Electroretinography Walker-Warburg Syndrome Gene Deletion Infant, Newborn Ichthyosis

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