Genes, RecessiveMuscular DystrophiesMuscular Dystrophy, DuchennePedigreeMuscular Dystrophy, AnimalConsanguinityMutationGenetic LinkageDystrophinMuscular Dystrophies, Limb-GirdleMyotonic DystrophyGranulomatous Disease, ChronicDNA Mutational AnalysisHomozygoteMuscular Dystrophy, FacioscapulohumeralChromosome MappingSpastic Paraplegia, HereditaryLod ScoreMutation, MissenseSyndromeMice, Inbred mdxMuscular Dystrophy, Emery-DreifussPhenotypeExonsSarcoglycansHeterozygoteImmunologic Deficiency SyndromesHaplotypesCorneal Dystrophies, HereditaryMolecular Sequence DataDystroglycansBase SequenceInheritance PatternsGenetic MarkersGenes, DominantMuscular Dystrophy, OculopharyngealUtrophinMuscle, SkeletalAmino Acid SequenceParkinson DiseaseAbnormalities, MultipleArthrogryposisX ChromosomeDysostosesCodon, NonsenseHeterozygote DetectionFuchs' Endothelial DystrophyRetinal DystrophiesPolycystic Kidney, Autosomal RecessiveGenotypeHearing Loss, SensorineuralEctodermal DysplasiaCollagen Type VIThymopoietinsDeafnessFamily HealthRetinitis PigmentosaCollagen Type XICharcot-Marie-Tooth DiseaseMicrosatellite RepeatsSarcolemmaChromosomes, Human, Pair 4Muscle ProteinsOsteogenesis ImperfectaMuscular DiseasesDystrophin-Associated ProteinsAllelesCreatine KinaseMusclesMyoblastsIntellectual DisabilityMuscle Fibers, SkeletalFrameshift MutationLamin Type ADisease Models, AnimalLamininCytoskeletal ProteinsMembrane ProteinsCrosses, GeneticMicrocephalyNeuromuscular DiseasesDystrophin-Associated Protein ComplexCaveolin 3Neuroaxonal DystrophiesHeredityPoly(A)-Binding Protein IIUbiquitin-Protein LigasesHypotrichosisGenetic TestingWalker-Warburg SyndromeInfant, NewbornPolymerase Chain ReactionElectroretinographyAge of OnsetGenetic HeterogeneityFounder EffectIchthyosisCardiomyopathiesPoint MutationRetinal Degeneration