Genes, Vol. 11, Pages 129: Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures

Genes, Vol. 11, Pages 129: Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures Genes doi: 10.3390/genes11020129 Authors: Landires Núñez-Samudio Fernandez Sarria Villareal Córdoba Apráez-Ippolito Martínez Vidal Vélez Arcos-Holzinger Landires Arcos-Burgos Presented here are five members of a family that was ascertained from an isolated, consanguineous, indigenous Amerindian community in Colombia that was affected with calpain 3-related, limb-girdle muscular dystrophy type R1. These patients are homozygous for a unique and novel deletion of four bases (TGCC) in exon 3 of the calpain 3 gene (CAPN3) (NM_000070.2; NP_000061.1) (g.409_412del). The mutation site occurs at the CysPc protein domain, triggering a modified truncated protein structure and affecting motifs within the calpain-like thiol protease family (peptidase family C2) region. The patients reported here developed a very severe phenotype with primary contractures, spinal rigidity in the early stages of the disease, and bilateral talipes equinovarus (clubfoot) in the most affected patients who had the selective involvement of their extremities’ distal muscles in a way that resembled Emery–Dreifuss syndrome. We recommend mandatory screening for calpainopathy in all patients with an Emery–Dreifuss-like syndrome or those presenting a non-congenital illness w...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research

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DiscussionDystrophin deficiency likely disrupts Octn2 expression decreasing muscle carnitine uptake thus contributing to membranotoxic long-chain acyl-CoAs with sarcolemmal and organellar membrane oxidative injury providing a treatment rationale for early L-carnitine in DMD.
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research
Publication date: Available online 13 February 2020Source: Journal of Clinical NeuroscienceAuthor(s): Takashi Shimoyama, Hiroshi Hayashi, Fumiaki Suzuki, Yasuhiro Nishiyama, Yoshihiro Miyamoto, Takeshi Aiba, Wataru Shimizu, Kazumi KimuraAbstractMyotonic dystrophy type 1 (DM1) is an autosomal dominant inherited muscular dystrophy caused by an expanded CTG repeat in the dystrophia myotonica protein kinase (DMPK) gene. Cardiac involvements in DM1 are characterized by cardiac conduction delays and atrial or ventricular tachycardia, which increase the risk of sudden cardiac death when compared with general population. Only a fe...
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
Conclusions: Neuromuscular clinics could benefit from implementing consistent and recommended growth assessment practices. The development of evidence-based tools, training and protocols tailored to Duchenne muscular dystrophy should be a priority.IMPLICATIONS FOR REHABILITATIONGrowth and weight monitoring approaches vary within and between neuromuscular clinics.Additional training on discussing and managing weight are warranted across disciplines.Advocacy is required to ensure access to dietetic expertise within neuromuscular clinics. PMID: 32058820 [PubMed - as supplied by publisher]
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
Source: Expert Opinion on Biological Therapy - Category: Drugs & Pharmacology Authors: Source Type: research
SAN DIEGO, Feb. 12, 2020 -- (Healthcare Sales &Marketing Network) -- Avidity Biosciences, Inc. (Avidity), a privately-held biotechnology company pioneering Antibody Oligonucleotide Conjugates (AOCs™), announced today the appointment of Joseph Baroldi as ... Biopharmaceuticals, Personnel Avidity Biosciences, Antibody-Oligonucleotide Conjugates, muscular dystrophy
Source: HSMN NewsFeed - Category: Pharmaceuticals Source Type: news
Publication date: Available online 10 February 2020Source: Neuroscience LettersAuthor(s): Dina Cheryne Belhasan, Mohammed AkaabouneABSTRACTThe Dystrophin Glycoprotein Complex (DGC) is a large multi-protein complex that links cytoskeleton actin to the extracellular matrix. This complex is critical in maintaining the structural integrity of muscle fibers and the stability of the neuromuscular synapse. The DGC consists of dystrophin and its utrophin homolog, as well as dystroglycans, sarcoglycans, sarcospan, syntrophins, and dystrobrevins. Deficiencies in DGC proteins result in several forms of muscular dystrophy with varying...
Source: Neuroscience Letters - Category: Neuroscience Source Type: research
Condition:   Facioscapulohumeral Muscular Dystrophy (FSHD) Intervention:   Drug: Losmapimod Sponsor:   Fulcrum Therapeutics Not yet recruiting
Source: - Category: Research Source Type: clinical trials
Nature Reviews Cardiology, Published online: 11 February 2020; doi:10.1038/s41569-020-0350-7A somatic gene editing therapy for the treatment of Duchenne muscular dystrophy (DMD) improves skeletal and cardiac muscle function and reduces cardiac arrhythmogenic vulnerability in a pig model of DMD and an in vitro model of human DMD.
Source: Nature Reviews Cardiology - Category: Cardiology Authors: Source Type: research
This article reviews current trends in the use of DT VAD and adverse events in children vs adults on VAD, and provides a framework for patient selection with the use of a multidisciplinary approach including palliative care. The general approach to determining DT VAD candidacy should include: 1) a reasonable success that the patient will survive the peri- and postoperative state; and 2) a high likelihood that the patient will be able to be discharged out of hospital and have adequate caregiver support. Patients with muscular dystrophy and failing Fontan physiology are examples of pediatric populations for whom DT VAD may b...
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research
This article summarizes the milestones in the development of golodirsen leading to this first approval for DMD.
Source: Drugs - Category: Drugs & Pharmacology Source Type: research
More News: Colombia Health | Genetics | Muscular Dystrophy | Reflex Sympathetic Dystrophy