2023
P299 Over-expression of FKRP in heart induces myocarditis and dilated cardiomyopathy in LGMD2I/R9 mice
Huang S, Ma K, Cohen J, Ho V, Xu J, Gauthier L, O'Connor C, Ge L, Woodman K, Lek M. P299 Over-expression of FKRP in heart induces myocarditis and dilated cardiomyopathy in LGMD2I/R9 mice. Neuromuscular Disorders 2023, 33: s118. DOI: 10.1016/j.nmd.2023.07.209.Peer-Reviewed Original ResearchGene replacement therapyReplacement therapySkeletal muscleFKRP geneLeft ventricular cavity sizeEvidence of myocarditisHigh expressionLow ejection fractionVentricular cavity sizeAutosomal recessive disorderCardiac involvementEjection fractionInflammatory infiltrationCardiac statusCardiac outputFatal cardiotoxicityFatal myocarditisDosed miceInclusion criteriaHeart sectionsMouse modelDystrophic miceDystrophic pathologyFKRP mutationsPatients
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