Genes, RecessiveMuscular DystrophiesMuscular Dystrophy, DuchennePedigreeConsanguinityMuscular Dystrophy, AnimalMutationGenetic LinkageDystrophinMuscular Dystrophies, Limb-GirdleDNA Mutational AnalysisHomozygoteGranulomatous Disease, ChronicMyotonic DystrophyMuscular Dystrophy, FacioscapulohumeralChromosome MappingSpastic Paraplegia, HereditaryLod ScoreMutation, MissenseSyndromeGenes, DominantMice, Inbred mdxPhenotypeExonsMuscular Dystrophy, Emery-DreifussSarcoglycansHeterozygoteHaplotypesImmunologic Deficiency SyndromesMolecular Sequence DataCorneal Dystrophies, HereditaryBase SequenceDystroglycansGenetic MarkersMuscular Dystrophy, OculopharyngealUtrophinMuscle, SkeletalAmino Acid SequenceParkinson DiseaseAbnormalities, MultipleCodon, NonsensePolycystic Kidney, Autosomal RecessiveArthrogryposisDysostosesX ChromosomeHeterozygote DetectionRetinal DystrophiesRetinitis PigmentosaFuchs' Endothelial DystrophyHearing Loss, SensorineuralGenotypeEctodermal DysplasiaDeafnessCollagen Type VIThymopoietinsFamily HealthCharcot-Marie-Tooth DiseaseCollagen Type XIMicrosatellite RepeatsChromosomes, Human, Pair 4Osteogenesis ImperfectaSarcolemmaFrameshift MutationAllelesMuscular DiseasesMuscle ProteinsDystrophin-Associated ProteinsCreatine KinaseIntellectual DisabilityMusclesDisease Models, AnimalLamin Type AMuscle Fibers, SkeletalMyoblastsMicrocephalyHypotrichosisMembrane ProteinsLamininIchthyosisCytoskeletal ProteinsNeuromuscular DiseasesUbiquitin-Protein LigasesNeuroaxonal DystrophiesDystrophin-Associated Protein ComplexCaveolin 3Founder EffectElectroretinographyGenetic TestingPoly(A)-Binding Protein IIPoint MutationPolymerase Chain ReactionWalker-Warburg SyndromeRetinal DegenerationInfant, NewbornGenetic HeterogeneityAge of OnsetPolymorphism, Single-Stranded ConformationalIchthyosiform Erythroderma, CongenitalCardiomyopathiesVitelliform Macular Dystrophy