A resolved discrepancy between multiplex PCR and multiplex ligation ‐dependent probe amplification by targeted next‐generation sequencing discloses a novel partial exonic deletion in the Duchenne muscular dystrophy gene

Journal of Clinical Laboratory Analysis, EarlyView.
Source: Journal of Clinical Laboratory Analysis - Category: Laboratory Medicine Authors: Source Type: research

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Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene. Biomed Res Int. 2018;2018:3710814 Authors: Xie Z, Xiao J, Zheng Y, Wang Z, Yuan Y Abstract Limb girdle muscular dystrophy type 2I (LGMD2I) is an autosomal recessive muscular dystrophy that is rare in Asia and is caused by mutations in the fukutin-related protein gene (FKRP). The aim of this study was to determine if there are any characteristic features of muscle on magnetic resonance imaging (MRI) in patients with LGMD2I harborin...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
In conclusion, metformin or L-citrulline supplementation to BMD patients results in remarkable antidromic changes of the AGAT and GAMT pathways. In combination, metformin and L-citrulline at the doses used in the present study seem to abolish the biochemical effects of the single drugs in slight favor of L-citrulline. PMID: 30003335 [PubMed - as supplied by publisher]
Source: Amino Acids - Category: Biochemistry Authors: Tags: Amino Acids Source Type: research
AbstractAlthough progressive cardiac dysfunction is the leading cause of death in patients with Duchenne muscular dystrophy (DMD), their cardiac function measured by conventional echocardiography has been generally interpreted as normal at a young age. We aimed to determine whether two-dimensional speckle tracking echocardiography (STE) or tissue Doppler imaging (TDI) could be used for early identification and detection of cardiac dysfunction in young patients with DMD. Thirteen pediatric patients (mean age, 9.69  ± 2.2 years) with DMD and 26 age-matched healthy children (mean age, 9.65 &pl...
Source: Pediatric Cardiology - Category: Cardiology Source Type: research
CARB-X's $4.5 million award comes just a few weeks after the company shut down on a Duchenne muscular dystrophy trial and laid off most of their employees in Cambridge.
Source: bizjournals.com Health Care:Physician Practices headlines - Category: American Health Authors: Source Type: news
Publication date: September 2018Source: Clinica Chimica Acta, Volume 484Author(s): Akiomi Yoshihisa, Takatoyo Kiko, Takamasa Sato, Masayoshi Oikawa, Atsushi Kobayashi, Yasuchika TakeishiAbstractThe differential diagnosis of cardiomyopathy is important. It has been recently reported that urinary titin N (U-TN) is increased in patients with muscular dystrophy (MD), and is associated with muscular damage. We aimed to clarify whether U-TN is useful as a diagnostic tool for distinguishing MD from various cardiomyopathies [e.g. dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM)]. We measured and compared the U-TN/cr...
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research
CARB-X's $4.5 million award comes just a few weeks after the company shut down on a Duchenne muscular dystrophy trial and laid off most of their employees in Cambridge.
Source: bizjournals.com Health Care:Biotechnology headlines - Category: Biotechnology Authors: Source Type: news
Publication date: August 2018Source: Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Volume 1865, Issue 8Author(s): Vidhya Krishnamoorthy, Richa Khanna, Veena K. ParnaikAbstractLamins constitute the major architectural proteins of the nuclear lamina that help in maintaining nuclear organization. Mutations in lamins are associated with diverse degenerative diseases, collectively termed laminopathies. HECW2, a HECT-type E3 ubiquitin ligase, is transcriptionally upregulated in HeLa cells expressing Emery-Dreifuss muscular dystrophy-causing-lamin A mutants. However, the role of HECW2 upregulation in mediating do...
Source: Biochimica et Biophysica Acta (BBA) Molecular Cell Research - Category: Molecular Biology Source Type: research
This study set out to characterize the mitochondria in primary muscle satellite cell derived myoblasts from mdx mice and wild type control mice. Compared to wild type derived cells the mdx derived cells have reduced mitochondrial bioenergetics and have fewer mitochondria. Here, we demonstrate that a novel PPARδ modulator improves mitochondrial function in the mdx mice, which supports that modulating PPARδ may be therapeutically beneficial in DMD patients.
Source: Mitochondrion - Category: Biochemistry Source Type: research
Publication date: Available online 5 April 2018Source: Biochimica et Biophysica Acta (BBA) - General SubjectsAuthor(s): Shuping Li, Fei Gao, Jiaqiang Huang, Yuanyuan Wu, Sen Wu, Xin Gen LeiAbstractBackgroundSelenium (Se) is an essential micronutrient required by avian species. Dietary Se/vitamin E deficiency induces three classical diseases in chicks: exudative diathesis, nutritional pancreatic atrophy, and nutritional muscular dystrophy.Scope of reviewThis review is to summarize and analyze the evolution, regulation, and function of avian selenogenome and selenoproteome and their relationship with the three classical Se/v...
Source: Biochimica et Biophysica Acta (BBA) General Subjects - Category: Biochemistry Source Type: research
ConclusionsWB is a cost-effective alternative for the diagnosis of patients suspected of having Duchenne or Becker muscular dystrophy in the Colombian health system. The IHC test is rated as the second-best detection method. If these tests are not available, MLPA followed by sequencing would be the most cost-effective alternative.
Source: Value in Health Regional Issues - Category: International Medicine & Public Health Source Type: research
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