Figure 1 Genetic profile of 90 patients with dysferlin deficiency

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21 YEAR OLD FEMALE WITH PROGRESSIVE WEAKNESS Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology.

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Date of download: 9/17/2016 Copyright © 2016 American Medical Association. All rights reserved. From: Cardiac Involvement in Patients With Limb-Girdle.

Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology Two sisters with scapular winging.

Diagnostic approach to patients with a limb-girdle pattern of weakness and suspected muscular dystrophy with an autosomal recessive inheritance pattern.

COHORT OF LIMB GIRDLE MUSCULAR DYSTROPHY FROM SOUTHERN INDIA

Figure Pedigrees of the SCA42 families identified in this study

Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)

Figure 1 Summary of prior diagnostic workup in neuromuscular disorder cases Summary of prior diagnostic workup in neuromuscular disorder cases Percentage.

Figure 3 Pedigree of familial idiopathic transverse myelitis

Figure 1 Percentages of patients with first seizure experiencing a recurrent seizure over time This graph is based on a fixed-effect pooled percentage.

Figure 3 Translational research projects in LGMD

Figure 1 Hierarchical clustering (HCL) outcome of all tested samples with the expression profile of the case report set as unknown Hierarchical clustering.

Figure 1 Treg percentage and suppressive function increased during each round of Treg infusions Treg percentage and suppressive function increased during.

Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.

Figure 2 FXTAS Rating Scale scores for case 1

Figure 2. Ophthalmologic findings of bialleic AP5Z1 mutations

Figure Pedigree of the family

Figure 2 Association between coronary artery disease polygenic risk score and the presence of migraine Results are given as odds ratios with 95% confidence.

Figure Increase of publications relating to genetics and neurology Pubmed was searched for the following advanced search term: (gene[Text Word]) OR mutation[Text.

Figure 1 Clinical aspects of LGMD subtypes

Figure 1 MOR103 sequential-dose trial flowchart of study population with multiple sclerosis aPatients received 2 doses of study drug before trial withdrawal.

Figure 2 Luciferase assays of transiently transfected HEK 293 cells with reporter constructs containing the 766-bp wild-type KCNJ18 or c.-542 T/A mutant.

Figure 2. EZO levels in infants and young children compared to adults at similar doses EZO levels in infants and young children compared to adults at similar.

Figure 2 Correlation between total IgG levels and anti-AQP4 IgG titer

Figure 1 Dominant and recessive missense and nonsense variants in neurofilament light (NEFL)‏ Dominant and recessive missense and nonsense variants in.

Figure WDR45 sequence changes in patients A and B

Figure 3 EEG demonstrating ictal seizure discharges in a patient with faciobrachial dystonic seizures The EEG of a 56-year-old woman with faciobrachial.

Figure 3 Temporal trends in FALS incidence

Figure 1 All patients with pediatric genetic movement disorders, their genetic diagnoses, and type of genetic investigations All patients with pediatric.

Figure 2 Pathophysiological mechanisms in LGMD

Figure 2 Linkage analysis of chromosome 19

Figure 3 Mutation carrier–derived lymphoblastoid cell lines (LCLs) show decreased aconitase 2 activity and mitochondrial respiration deficiency compared.

Figure 1 Evolution of blood cell counts during 18-month treatment and follow-up (A) Mean white blood cell count, (B) mean lymphocyte count, (C) mean eosinophil.

Figure 4 Pattern of relapse in patients with MOG-Ab Five myelin oligodendrocyte glycoprotein antibody (MOG-Ab)–positive patients experienced a relapse,

Figure 1 Within-groups sum of squares vs number of clusters Within-groups sum of squares vs number of clusters to determine the number needed for k-means.

Figure 1 Family pedigree and DNA sequencing results

Figure 4 Voltage-clamp recordings of KCNJ18 carrying the patient's SNVs expressed in Xenopus laevis oocytes under control conditions and after application.

Figure 1 JCV serostatus JCV serostatus (A) Serostatus of 1,921 natalizumab-treated patients with multiple sclerosis, with JCV− patients shown in black.

Figure 5 Pairwise correlations between selected patient-reported outcomes and performance tests in patients with MS (A) The number of pairwise correlations.

Figure 4. Electron microscopic findings in AP-5 patient cells

Figure 1 Annual trend in specimen type submitted as first sample for aquaporin-4 immunoglobulin G testing (serum only vs CSF only vs both) from 101,065.

Figure Pedigree of the family and segregation analysis of the FUS p

Figure 1 Patterns of study retention The proportion of individuals actively participating in the study is displayed over the course of the study. Patterns.

Figure 1 Histamine flare in patients and controls

Figure 3 Pedigrees of 3 multiplex families with NLRP3 mutations and MS The patient numbers refer to the patients listed in table 1. Pedigrees of 3 multiplex.

Figure 5 Multiple immunohistochemistry for various RNA-binding proteins and VCP/p97 Representative microphotographs of transverse cryosections from the.

Figure Molecular structure Molecular structure of delta-9-tetrahydrocannabiol (THC) (left), which has psychoactive properties, compared to molecular structure.

Figure 2 Correlation between wGRS and age at onset The figure shows the correlation between weighted genetic risk score (wGRS) and age at onset in all.

Figure Family pedigree

Figure 2. Patient stratification by the reported duration of symptoms and disease severity at the time of assessment Patient stratification by the reported.

Figure 1 Compound heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency Compound heterozygous mutations in HSD17B4.

Figure Avidity of IgG specific for influenza A and B following flu vaccinationAvidity of immunoglobulin (Ig) G specific for influenza A and B before and.

Figure 1 Peripheral blood lymphocyte counts during dose titrationB-lymphocyte (CD19+; A) and total lymphocyte (CD45+; B) counts (cells/µL) in peripheral.

Figure Spinal cord imaging (A, B) Sagittal and axial T2-weighted cervical spine MRI demonstrating hyperintensities in the central gray matter of patient.

Figure 2 Neuroimaging characteristics of TARDBP carriers

Figure Meta-analysis of 9 studies of patients with attention-deficit/hyperactivity disorder (ADHD) vs controls Meta-analysis of 9 studies of patients with.

Figure 1 bvFTD PINBPA network

Figure 1 Classical pathway and lectin pathway activity in patients with multifocal motor neuropathy and controls Classical pathway (CP) activity (A) and.

Figure 1 Follow-up periods of 33 anti–3-hydroxy-3-methylglutaryl coenzyme A reductase autoantibody (HMGCR Ab+) myopathy patients in relation to cancer.

Figure 2 Distribution of DEPDC5 variants in patients and controls

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Figure 6 Multiple target epitopes exist in the N-terminal domains of Caspr2 (A) Multidomain deletion constructs of Caspr2 were generated to determine which.

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Figure 1. Pedigree and clinical picture of the patient

Figure 2 Compound heterozygous mutations in ADAM22

Figure 1 ASO functions ASO functions Target mRNA fates depending on ASO mechanism of action that is determined by where the ASO is targeted and by ASO.

Figure 3 Within-group comparisons (before–after)‏

Figure 2 Striatal dopamine transporter binding with the SNCA A53E mutation Transaxial planes of [123I]FP-CIT SPECT on the striatal level are presented.

Figure 2 Interleukin-6 concentrations in the CSF In 2 mutation carriers (patient 1 in dark blue triangle and patient 5 in light blue triangle carrying.

Figure 2. Percentage of CD16− monocytes in the blood is reduced during disease progression Percentage of CD16− monocytes in the blood is reduced during.

Presentation transcript:

Figure 1 Genetic profile of 90 patients with dysferlin deficiency Genetic profile of 90 patients with dysferlin deficiency DYSF mutations were identified in a total of 63 patients (70%). Nine patients (10%) were diagnosed with CAPN3 mutations. Of the 90 patients, 38 and 41 manifested as distal myopathy (DM) and limb-girdle muscular dystrophy (LGMD), respectively, and the remaining 11 were unclassifiable. The genetic profiles for each manifestation are also shown. The proportion of DYSF mutations was more frequent for the DM phenotype (76%) than for the LGMD phenotype (63%), whereas CAPN3 mutations were more frequent in the LGMD phenotype (15%) than in the DM phenotype (5%). Rumiko Izumi et al. Neurol Genet 2015;1:e36 © 2015 American Academy of Neurology