2016
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there
O'Grady GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, Ghaoui R, Sandaradura SA, Best H, Kaur S, Davis M, Laing NG, Muntoni F, Hoffman E, MacArthur DG, Clarke NF, Cooper S, North K. Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. Annals Of Neurology 2016, 80: 101-111. PMID: 27159402, DOI: 10.1002/ana.24687.Peer-Reviewed Original ResearchConceptsMuscle biopsyImmunohistochemical analysisGenetic diagnosisCongenital muscular dystrophy patientsFirst-line toolCandidate gene sequencingCongenital myasthenic syndromeCongenital muscular dystrophyMuscular dystrophy patientsAnn NeurolMyasthenic syndromeUndiagnosed patientsCMD patientsCongenital myopathyLarge cohortProbable diagnosisPatientsGene sequencingClinical phenotypeDystrophy patientsLaminin α2BiopsyDiagnosisChromosomal microarrayCohort
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