0000000000634543

AUTHOR

C Pollitt

showing 2 related works from this author

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

2000

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and life-threatening cardiomyopathy with conduction blocks. We recently identified LMNA encoding two nuclear envelope proteins, lamins A and C, to be implicated in the autosomal dominant form of EDMD. Here, we report on the variability of the phenotype and spectrum of LMNA mutations in 53 autosomal dominant EDMD patients (36 members of 6 families and 17 sporadic cases). Twelve of the 53 patients showed cardiac involvement exclusively, although the remaining 41 all showed muscle weakness and contractures. We were able to identify …

AdultMaleContractureAdolescentGenotypeBiopsyNonsense mutationDNA Mutational AnalysisEmerinMutation MissenseLaminopathyBiologyLMNACardiovascular Physiological PhenomenamedicineMissense mutationHumansEmery–Dreifuss muscular dystrophyMuscular dystrophyAge of OnsetChildCreatine KinasePhysical ExaminationMuscle contractureAgedGenes DominantGeneticsMuscle WeaknessMyocardiumNuclear ProteinsHeartMiddle Agedmedicine.diseaseLamin Type ALaminsMuscular Dystrophy Emery-DreifussPedigreeMuscular AtrophyPhenotypeNeurologyDisease ProgressionFemaleNeurology (clinical)Gene DeletionAnnals of neurology
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Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).

2000

Made available in DSpace on 2016-10-10T03:52:18Z (GMT). No. of bitstreams: 5 Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy.pdf: 167085 bytes, checksum: b445ec059ea2d0f06bd4fa913354872a (MD5) license_url: 52 bytes, checksum: 2f32edb9c19a57e928372a33fd08dba5 (MD5) license_text: 24259 bytes, checksum: f1f24f769b03eb8f9cd3f53c1090841c (MD5) license_rdf: 24658 bytes, checksum: 9d3847733d3c0b59c7c89a1d40d3d240 (MD5) license.txt: 1887 bytes, checksum: 445d1980f282ec865917de35a4c622f6 (MD5) Previous issue date: 2000 Dysferlin is the protein product of the gene (DYSF) that is defective in patients with limb girdle muscular dy…

medicine.medical_specialtyDysferlinopathyDNA Mutational AnalysisMuscle ProteinsMuscular DystrophiesWestern blottingDysferlinMuscular DiseasesLamininInternal medicinemedicineMissense mutationCalpain 3HumansMuscular dystrophyDysferlinGenetics (clinical)Geneticsbiologybusiness.industryCalpainMembrane ProteinsCalpainmedicine.diseaseMuscular dystrophyLaminin alpha 2EndocrinologyMuscle proteinsNeurologyPediatrics Perinatology and Child Healthbiology.proteinNeurology (clinical)LamininbusinessMerosinLimb-girdle muscular dystrophyNeuromuscular disorders : NMD
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