Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity

Bethlem myopathy 1 and the more severe Ullrich congenital muscular dystrophy 1 are both associated with mutations in one of the three collagen VI genes —COL6A1, COL6A2 and COL6A3. Since the same genes are involved, these two diseases are now often viewed as the two extremes of a spectrum of collagen VI-related myopathies. Lately, however, there has been also data on involvement of the COL12A1 gene, with mutations in it being associated with Bethl em myopathy 2 [1–3].
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research

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Publication date: Available online 2 July 2020Source: Stem Cell ReportsAuthor(s): Mingming Zhao, Atsutoshi Tazumi, Satoru Takayama, Nana Takenaka-Ninagawa, Minas Nalbandian, Miki Nagai, Yumi Nakamura, Masanori Nakasa, Akira Watanabe, Makoto Ikeya, Akitsu Hotta, Yuta Ito, Takahiko Sato, Hidetoshi Sakurai
Source: Stem Cell Reports - Category: Stem Cells Source Type: research
Authors: Iodice R, Ugga L, Aruta F, Iovino A, Ruggiero L Abstract Facioscapulohumeral muscular dystrophy 1 (FSHD1) is an autosomal dominant neuromuscular disorder, associated with reduction of tandemly arrayed repetitive DNA elements D4Z4 (DRA), at 4q35. Few cases, especially carriers of 1-3 DRA show a syndromic form. Anecdotally the association of FSHD with multiple sclerosis (MS) is reported. Herein we report a 33 years old Caucasian with a molecular diagnosis of FSHD1 with classical phenotype (clinical category A2) and concomitant white matter lesions suggestive of MS. White matter lesions in patients with FSHD ...
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
Authors: Schorling DC, Müller CK, Pechmann A, Borell S, Langer T, Thiele S, Walter MC, Zieger B, Kirschner J Abstract Different complications of hemostasis have been reported in patients with Duchenne Muscular Dystrophy (DMD). These comprise an increased rate of bleeding-symptoms during scoliosis surgery but also thromboembolic complications such as pulmonary embolism, cerebral infarction, deep vein thrombosis or cardiac thrombus. For this cross-sectional study, personalized online survey-links were forwarded to 682 registered patients with a genetically confirmed diagnosis of DMD via the German-Austrian DMD p...
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
Conclusions: The findings of our study show that exercise protects proliferative SCs against exhaustion via the Igfbp7-Akt-mTOR axis. These findings establish a link between mechanical signaling, mitochondrial metabolism, epigenetic modification, and stem cell fate decisions; thus, present potential therapeutic targets for muscle diseases correlated with SC exhaustion.
Source: Theranostics - Category: Molecular Biology Authors: Tags: Research Paper Source Type: research
Our findings suggest that patients with Duchenne muscular dystrophy exhibit decline in functional capacity after 2  years from the baseline. Moreover, to cope with disease progression, patients try to maintain an effective gait by changing the balance dynamic strategies (i.e. increase in proximal muscle coactivation) during the course of disease.
Source: Clinical Biomechanics - Category: Orthopaedics Authors: Source Type: research
ConclusionWe have shown that TNFRSF10A CT haplotype correlates with corticosteroid response in DMD patients and propose it as an exploratory CS response biomarker.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Hansa grants Sarepta exclusive license to develop and promote imlifidase as a potential pre-treatment prior to the administration of gene therapy in Duchenne muscular dystrophy and Limb-girdle muscular dystrophy, for patients with neutralizing antibodies (... Biopharmaceuticals, Licensing Hansa Biopharma, Sarepta Therapeutics, imlifidase, muscular dystrophy
Source: HSMN NewsFeed - Category: Pharmaceuticals Source Type: news
Contributors : Ashvin Iyer ; James HolaskaSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusRNA sequencing was performed on proliferating and differentiating emerin-null myogenic progenitors expressing emerin and EDMD-causing emerin mutants to identify molecular pathways implicated in Emery-Dreifuss Muscular Dystrophy.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
Contributors : Julie Martone ; Valerio Di Carlo ; Enrique BlancoSeries Type : Genome binding/occupancy profiling by high throughput sequencingOrganism : Homo sapiensExon skipping is an effective strategy for the treatment of Duchenne Muscular Dystrophy (DMD). Natural exon skipping identified in several DMD cases can help with identifying novel therapeutic tools. Here, we demonstrate that CRISPR/Cas9 inactivation of the splicing factor Celf2a in a DMD-D44 background induces skipping of exon-45 and dystrophin rescue. Celf2a ablation could be compatible with life and curative since a DMD case with a milder symptomatology exis...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Genome binding/occupancy profiling by high throughput sequencing Homo sapiens Source Type: research
Publication date: Available online 29 June 2020Source: Stem Cell ResearchAuthor(s): Kseniya Perepelina, Aleksandra Kostina, Polina Klauzen, Aleksandr Khudiakov, Martina Rabino, Silvia Crasto, Anna Zlotina, Yulia Fomicheva, Alexey Sergushichev, Mari Oganesian, Alexander Dmitriev, Anna Kostareva, Elisa Di Pasquale, Anna Malashicheva
Source: Stem Cell Research - Category: Stem Cells Source Type: research
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