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

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Anatomy28

Muscle, Skeletal X Chromosome Sarcolemma Chromosomes, Human, Pair 4 Muscles Muscle Fibers, Skeletal Myoblasts Chromosomes, Human, Pair 2 Diaphragm Fundus Oculi Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 19 Cells, Cultured Mitochondria Fibroblasts Satellite Cells, Skeletal Muscle Chromosomes, Human, Pair 5 Cell Line Muscle Cells Brain Myoblasts, Skeletal Chromosomes, Human, Pair 6 Photoreceptor Cells, Vertebrate Chromosomes, Human, Pair 10 Myocardium Nuclear Envelope Skin Retina

Organisms7

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

Diseases93

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

Chemicals and Drugs47

Dystrophin Sarcoglycans Dystroglycans Genetic Markers Utrophin Codon, Nonsense Thymopoietins Collagen Type VI Collagen Type XI Muscle Proteins Dystrophin-Associated Proteins Creatine Kinase Lamin Type A Laminin Dystrophin-Associated Protein Complex Cytoskeletal Proteins Caveolin 3 Membrane Proteins Poly(A)-Binding Protein II Ubiquitin-Protein Ligases Calpain Plectin Eye Proteins Connectin DNA Membrane Glycoproteins RNA, Messenger Myostatin DNA Primers Lamins Mannosyltransferases Proteins N-Acetylglucosaminyltransferases Nerve Tissue Proteins RNA Splice Sites Creatine Kinase, MM Form Poly(A)-Binding Protein I Extracellular Matrix Proteins Morpholinos Nuclear Proteins Oxepins Codon, Terminator Carrier Proteins Integrin alpha Chains Evans Blue Pregnenediones Survival of Motor Neuron 1 Protein

Analytical, Diagnostic and Therapeutic Techniques and Equipment23

Pedigree DNA Mutational Analysis Chromosome Mapping Heterozygote Detection Disease Models, Animal Electroretinography Genetic Testing Polymerase Chain Reaction Genetic Therapy Prenatal Diagnosis Immunohistochemistry Muscle Strength Biopsy Blotting, Western Sequence Analysis, DNA Magnetic Resonance Imaging Crosses, Genetic Reverse Transcriptase Polymerase Chain Reaction Fluorescent Antibody Technique Fatal Outcome Models, Genetic Blotting, Southern Amino Acid Substitution

Psychiatry and Psychology3

Intellectual Disability Family Siblings

Phenomena and Processes59

Genes, Recessive Consanguinity Mutation Genetic Linkage Homozygote Mutation, Missense Lod Score Exons Phenotype Heterozygote Haplotypes Base Sequence Genetic Markers Genes, Dominant Amino Acid Sequence Codon, Nonsense X Chromosome Genotype Chromosomes, Human, Pair 4 Microsatellite Repeats Frameshift Mutation Alleles Founder Effect Point Mutation Polymorphism, Single-Stranded Conformational Genetic Heterogeneity Sequence Deletion Chromosomes, Human, Pair 2 Gene Deletion Regeneration Exome Muscle Development Muscle Strength Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 19 Glycosylation Introns Chromosomes, Human, Pair 5 Polymorphism, Genetic Gene Expression Regulation Trinucleotide Repeat Expansion Polymorphism, Restriction Fragment Length Time Factors Gene Expression Genetic Predisposition to Disease Chromosome Deletion Alternative Splicing RNA Splice Sites Chromosomes, Human, Pair 6 Sequence Homology, Amino Acid RNA Splicing Chromosomes, Human, Pair 10 Codon, Terminator Genetic Vectors Protein Structure, Tertiary Mosaicism Muscle Contraction Amino Acid Substitution Transgenes

Disciplines and Occupations2

Immunohistochemistry Genetic Counseling

Anthropology, Education, Sociology and Social Phenomena2

Family Siblings

Information Science4

Molecular Sequence Data Base Sequence Amino Acid Sequence Fatal Outcome

Named Groups4

Infant, Newborn Arabs Siblings Jews

Health Care5

Family Health Genetic Testing Age of Onset Genetic Counseling Fatal Outcome

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 Dystrophin Mutation Genetic Linkage Muscular Dystrophies, Limb-Girdle Myotonic Dystrophy Granulomatous Disease, Chronic DNA Mutational Analysis Homozygote Muscular Dystrophy, Facioscapulohumeral Spastic Paraplegia, Hereditary Chromosome Mapping Mutation, Missense Lod Score Mice, Inbred mdx Syndrome Muscular Dystrophy, Emery-Dreifuss Exons Sarcoglycans Phenotype Heterozygote Immunologic Deficiency Syndromes Corneal Dystrophies, Hereditary Haplotypes Dystroglycans Molecular Sequence Data Base Sequence Muscular Dystrophy, Oculopharyngeal Genetic Markers Utrophin Muscle, Skeletal Genes, Dominant Parkinson Disease Amino Acid Sequence Arthrogryposis Dysostoses Abnormalities, Multiple Codon, Nonsense X Chromosome Fuchs' Endothelial Dystrophy Retinal Dystrophies Heterozygote Detection Polycystic Kidney, Autosomal Recessive Hearing Loss, Sensorineural Thymopoietins Collagen Type VI Ectodermal Dysplasia Deafness Retinitis Pigmentosa Genotype Collagen Type XI Charcot-Marie-Tooth Disease Family Health Sarcolemma Chromosomes, Human, Pair 4 Muscle Proteins Dystrophin-Associated Proteins Osteogenesis Imperfecta Muscular Diseases Creatine Kinase Disease Models, Animal Muscles Microsatellite Repeats Muscle Fibers, Skeletal Myoblasts Lamin Type A Frameshift Mutation Laminin Intellectual Disability Neuromuscular Diseases Dystrophin-Associated Protein Complex Cytoskeletal Proteins Caveolin 3 Neuroaxonal Dystrophies Membrane Proteins Poly(A)-Binding Protein II Ubiquitin-Protein Ligases Microcephaly Walker-Warburg Syndrome Hypotrichosis Alleles Electroretinography Retinal Degeneration Cardiomyopathies Infant, Newborn Founder Effect Genetic Testing Polymerase Chain Reaction Ichthyosis Calpain Age of Onset Vitelliform Macular Dystrophy Point Mutation Sarcoglycanopathies Mice, Inbred C57BL

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