Genes, RecessiveMuscular DystrophiesMuscular Dystrophy, DuchennePedigreeMuscular Dystrophy, AnimalConsanguinityDystrophinMutationGenetic LinkageMuscular Dystrophies, Limb-GirdleMyotonic DystrophyGranulomatous Disease, ChronicDNA Mutational AnalysisHomozygoteMuscular Dystrophy, FacioscapulohumeralSpastic Paraplegia, HereditaryChromosome MappingMutation, MissenseLod ScoreSyndromeMice, Inbred mdxMuscular Dystrophy, Emery-DreifussExonsSarcoglycansPhenotypeHeterozygoteImmunologic Deficiency SyndromesCorneal Dystrophies, HereditaryHaplotypesDystroglycansMolecular Sequence DataBase SequenceMuscular Dystrophy, OculopharyngealGenetic MarkersUtrophinMuscle, SkeletalAbnormalities, MultipleGenes, DominantParkinson DiseaseAmino Acid SequenceArthrogryposisDysostosesCodon, NonsenseX ChromosomeFuchs' Endothelial DystrophyRetinal DystrophiesHeterozygote DetectionPolycystic Kidney, Autosomal RecessiveThymopoietinsCollagen Type VIHearing Loss, SensorineuralEctodermal DysplasiaDeafnessGenotypeRetinitis PigmentosaCollagen Type XICharcot-Marie-Tooth DiseaseFamily HealthSarcolemmaChromosomes, Human, Pair 4Muscle ProteinsDystrophin-Associated ProteinsOsteogenesis ImperfectaMuscular DiseasesCreatine KinaseMicrosatellite RepeatsMusclesDisease Models, AnimalMyoblastsMuscle Fibers, SkeletalLamin Type AIntellectual DisabilityLamininFrameshift MutationNeuromuscular DiseasesDystrophin-Associated Protein ComplexCytoskeletal ProteinsMembrane ProteinsCaveolin 3Neuroaxonal DystrophiesMicrocephalyPoly(A)-Binding Protein IIUbiquitin-Protein LigasesInfant, NewbornWalker-Warburg SyndromeAllelesHypotrichosisElectroretinographyChromosome DisordersCardiomyopathiesGenetic TestingIchthyosisPolymerase Chain ReactionFounder EffectRetinal DegenerationCalpainPoint MutationVitelliform Macular DystrophyEye AbnormalitiesAge of Onset