2015
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned
Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O’Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. JAMA Neurology 2015, 72: 1424-1432. PMID: 26436962, DOI: 10.1001/jamaneurol.2015.2274.Peer-Reviewed Original ResearchConceptsLGMD-related genesLimb-girdle muscular dystrophyWhole-exome sequencingMyopathy genesBiopsy specimensDiagnostic rateMutations of CHD7Follow-up screeningMuscular dystrophyAccurate clinical examinationLikely pathogenic mutationsMuscle biopsy specimensTubular aggregate myopathyCongenital myasthenic syndromeGenetic diagnosisDiagnostic success rateNeuromuscular clinicMuscle weaknessMyopathic changesClinical examinationHistopathological resultsAncillary investigationsMyasthenic syndromeCommon causeDiagnostic yield
2005
Plasma cells in muscle in inclusion body myositis and polymyositis
Greenberg S, Bradshaw E, Pinkus J, Pinkus G, Burleson T, Due B, Bregoli L, O’Connor K, Amato A. Plasma cells in muscle in inclusion body myositis and polymyositis. Neurology 2005, 65: 1782-1787. PMID: 16344523, DOI: 10.1212/01.wnl.0000187124.92826.20.Peer-Reviewed Original ResearchMeSH KeywordsAntigens, SurfaceAutoantigensB-LymphocytesBiomarkersBiopsyCell DifferentiationCell LineageHumansImmunoglobulinsImmunohistochemistryLymphocyte ActivationMembrane GlycoproteinsMuscle, SkeletalMyositis, Inclusion BodyPlasma CellsPolymyositisProteoglycansRNA, MessengerSyndecan-1SyndecansT-LymphocytesConceptsInclusion body myositisBody myositisB cellsImmunoglobulin gene transcriptsPlasma cellsImmunohistochemical studyCell-mediated immune mechanismsMore T cellsT cell populationsMuscles of patientsMuscle biopsy specimensPrevious immunohistochemical studiesB cell activationDifferentiated B cellsB-cell lineageCell surface markersImmunoglobulin gene rearrangementsUntreated patientsHumoral mechanismsBiopsy specimensImmune mechanismsLaser capture microdissectionT cellsPolymyositisMyositis
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