2023
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases
Lake N, Phua J, Liu W, Moors T, Axon S, Lek M. Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases. Journal Of Neuromuscular Diseases 2023, 10: 381-387. PMID: 37005889, DOI: 10.3233/jnd-221552.Peer-Reviewed Original Research
2019
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases
Liu W, Pajusalu S, Lake NJ, Zhou G, Ioannidis N, Mittal P, Johnson NE, Weihl CC, Williams BA, Albrecht DE, Rufibach LE, Lek M. Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases. Genetics In Medicine 2019, 21: 2512-2520. PMID: 31105274, DOI: 10.1038/s41436-019-0544-8.Peer-Reviewed Original ResearchConceptsMuscular dystrophyLimb-girdle muscular dystrophyClinical trialsGene-level mechanismsLower incidencePossible underdiagnosisGeneral populationEpidemiological studiesEpidemiology dataPrevalence estimatesGenetic subtypesMuscle diseaseLGMD subtypesDisease prevalencePrevalenceRecessive diseaseSubtypesPublic sequencing databasesDiseaseTrialsLGMDDystrophyHeterogeneous categorySequencing databases