Magic™ Anti-V5 tag antibody, clone TW6-Ql5 [FITC]

Introduction: Emery-Dreifuss muscular dystrophy (EDMD) also known as humeroperoneal muscular dystrophy, is a skeletal myopathy characterized by the clinical triad of progressive muscular weakness, joint contractures, and cardiac disease. Methodology: Herein, we reported a family including two patients (the proband and his son) affected with progressive muscular dystrophy manifested by joint contractures without cardiac involvement ("EDMD-like" phenotype). Interestingly, electodiagnostic study results of the proband showed a neuropathic pattern different from the myopathic pattern in most muscular dystrophy patients. To identify the underlying genetic cause, genomic DNA of the proband was analyzed by WES using Agilent's SureSelect XT Human All Exon v5. Results: A novel de novo pathogenic heterozygous missense mutation (NM_182914.2: c.4858G > A; p.Ala1620Thr) of the SYNE2 gene, which had not been previously reported was identified by whole exome sequencing in the proband and by Sanger sequencing in his son. Conclusion: To the best knowledge, SYNE2 mutation was reported first by whole exome sequencing in a Korean family with EDMD-like features. We emphasized the role of genetic analysis using whole exome sequencing, which allows the correct recognition of this molecular diagnosis and brings together the neuromuscular spectrum of this complex clinical scenario, leading to proper clinical management.

Background Apical hypertrophic cardiomyopathy (ApHCM) is a phenotypic variant of nonobstructive HCM. ApHCM is characterized by left ventricular hypertrophy involve the distal apex. The electrocardiographic character of ApHCM can mimic non-ST elevation acute coronary syndrome (NSTEACS), triggering a series of studies and treatments that may be unnecessary. This study aimed to clarify the electrocardiogram (ECG) differences between the two diseases. Methods Initial ECG recordings of 41 patients with ApHCM and 72 patients with NSTEACS were analyzed retrospectively. We analyzed the voltage of negative T (neg T) and R wave, the change of ST-segment as well as the number of leads with neg T wave in the 12-lead ECGs. Results Across the 12-lead ECGs, the magnitude of R wave significantly differed between ApHCM and NSTEACS in 10 leads excluding leads aVR and V1. ApHCM was associated with a greater maximal amplitude of R wave in lead V5 (3.13 +/- 1.08 vs. 1.38 +/- 0.73 mV,P < 0.001). The magnitude of T wave significantly differed between ApHCM and NSTEACS in 10 leads excluding leads II and V1. ApHCM was associated with a greater maximal amplitude of neg T wave in lead V4 (0.85 +/- 0.69 vs. 0.35 +/- 0.23 mV,P < 0.001). The frequency of giant neg T (1mv or more) wave was higher in ApHCM (36.5% vs. 0%,P < 0.001). The magnitude of ST-segment deviation significantly differed between ApHCM and NSTEACS in 10 leads excluding leads aVF and V2. ApHCM was associated with a greater maximal amplitude of ST-segment depression in lead V5 (0.19 +/- 0.07 vs. 0.03 +/- 0.06 mV,P < 0.001). The number of leads with neg T wave also differed between ApHCM and NSTEACS (6.75 +/- 1.42 vs. 6.08 +/- 1.51,P = 0.046). The sum of R wave in lead V5, neg T wave in lead V6 and ST-segment depression in lead V4 > 2.585 mV identified ApHCM with 90.2% sensibility and 87.5% specificity, representing the highest diagnostic accuracy. Conclusions Compared with NSTEACS patients, ApHCM patients presented higher R and neg T wave voltage as well as a greater ST-segment depression in the 12-lead ECG. The ECG characteristics can help to differentiate ApHCM from NSTEACS in clinical setting.