Muscular DystrophiesGenes, RecessiveMuscular Dystrophy, DuchenneMuscular Dystrophy, AnimalPedigreeMyotonic DystrophyConsanguinityDystrophinMutationMuscular Dystrophy, FacioscapulohumeralGenetic LinkageCorneal Dystrophies, HereditaryMuscular Dystrophies, Limb-GirdleDNA Mutational AnalysisGranulomatous Disease, ChronicHomozygoteMice, Inbred mdxMuscular Dystrophy, Emery-DreifussSarcoglycansSpastic Paraplegia, HereditaryChromosome MappingMutation, MissenseLod ScoreSyndromeExonsPhenotypeHeterozygoteDystroglycansFuchs' Endothelial DystrophyImmunologic Deficiency SyndromesMuscular Dystrophy, OculopharyngealHaplotypesRetinal DystrophiesUtrophinMolecular Sequence DataBase SequenceMuscle, SkeletalGenetic MarkersGenes, DominantAmino Acid SequenceParkinson DiseaseX ChromosomeCodon, NonsenseArthrogryposisHeterozygote DetectionAbnormalities, MultipleThymopoietinsDysostosesCollagen Type VIRetinitis PigmentosaNeuroaxonal DystrophiesPolycystic Kidney, Autosomal RecessiveEctodermal DysplasiaHearing Loss, SensorineuralSarcolemmaGenotypeDeafnessDystrophin-Associated ProteinsChromosomes, Human, Pair 4Muscle ProteinsCollagen Type XIFamily HealthCreatine KinaseMyoblastsCharcot-Marie-Tooth DiseaseMusclesMuscle Fibers, SkeletalMuscular DiseasesVitelliform Macular DystrophyLamin Type ALamininDisease Models, AnimalMicrosatellite RepeatsRetinal DegenerationReflex Sympathetic DystrophyOsteogenesis ImperfectaElectroretinographyDystrophin-Associated Protein ComplexCaveolin 3Frameshift MutationNeuromuscular DiseasesPoly(A)-Binding Protein IICytoskeletal ProteinsIntellectual DisabilityMembrane ProteinsWalker-Warburg SyndromeHypotrichosisAllelesCardiomyopathiesCalpainUbiquitin-Protein LigasesGenetic TestingPolymerase Chain ReactionSarcoglycanopathiesMicrocephalyFounder EffectEye ProteinsPoint MutationFundus OculiGenetic Therapy