2024
Late Onset of Severe Demyelinating Peripheral Neuropathy in a 62-Year-Old African American Woman
Zivkovic S, DiCapua D. Late Onset of Severe Demyelinating Peripheral Neuropathy in a 62-Year-Old African American Woman. Journal Of Clinical Neuromuscular Disease 2024, 25: 152-156. PMID: 38441936, DOI: 10.1097/cnd.0000000000000481.Peer-Reviewed Original ResearchConceptsAfrican American womenAmerican womenSevere carpal tunnel syndromeCarpal tunnel syndromeHistory of gaitSensorimotor demyelinating polyneuropathyDemyelinating sensorimotor polyneuropathyEarly onset of symptomsSevere demyelinating peripheral neuropathyWalking difficultiesOnset of symptomsFamily historyNatural history studiesCharcot-Marie-Tooth diseaseGenetic testingTunnel syndromeHomozygous pathogenic mutationDistal sensory lossExamination scoresCharcot-Marie-ToothElectrodiagnostic testingDemyelinating polyneuropathySensorimotor polyneuropathySH3TC2 geneUnwitnessed fall
2013
Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.
Lakraj AA, Miller G, Vortmeyer AO, Khokhar B, Nowak RJ, DiCapua DB. Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports. The Yale Journal Of Biology And Medicine 2013, 86: 101-6. PMID: 23483815, PMCID: PMC3584487.Peer-Reviewed Original ResearchConceptsMyotonia congenitaClinical presentationPatient 1Salient clinical featuresCLCN1 geneSarcolemmal chloride conductanceClinical featuresPatient 2Muscle relaxationMuscle biopsyElectrical myotoniaGenetic testingCLCN1 mutationsCongenitaCommon typeNovel mutationsPatientsChloride conductanceRecessive formUnidentified mutationsMyotoniaGene sequencingPresentationMutationsBiopsy