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Speg myopathy

WebJul 8, 2024 · Whole exome sequencing analysis on a cohort of 29 patients with centronuclear myopathy (CNM) identified three unrelated patients carrying mutations in SPEG, two of which also exhibited DCM (Agrawal et al. 2014). In particular, a total of five mutations that affected both SPEGα and β isoforms were found in either a homozygous … WebApr 2, 2024 · Genetic variants in SPEG are associated with centronuclear myopathy with or without dilated cardiomyopathy (DCM). 1,2 Here, we report 3 individuals from 2 families …

SPEG Gene - GeneCards SPEG Protein SPEG Antibody

WebSpecific SPEG mutations can induce a severe CNM-like or, as described in this study, a rather moderate congenital myopathy without central nuclei. This is of major diagnostic importance, as SPEG mutations should be considered in patients with congenital hypotonia even in the absence of central nuclei. WebSpeg-null mice developed dilated cardiomyopathy associated with a cellular hypertrophic response, myofibril degeneration, and a marked decrease in cardiac function. Speg-null … fireplace igniter repair https://iapplemedic.com

SPEG mutations results in Centronuclear Myopathy

WebMay 27, 2024 · Striated muscle preferentially expressed protein kinase (SPEG) is from the myosin light chain kinase protein family and is encoded by the SPEG gene. SPEG has an important role in the... WebJul 16, 2024 · Summary Centronuclear myopathy (CNM) is an umbrella term for a group of rare genetic muscle disorders. These disorders are characterized by muscle weakness … WebSpecific SPEG mutations can induce a severe CNM-like or, as described in this study, a rather moderate congenital myopathy without central nuclei. This is of major diagnostic … fireplace igniter not working

SPEG binds with desmin and its deficiency causes defects

Category:Double the trouble: giant proteins with dual kinase activity in the ...

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Speg myopathy

IJMS Free Full-Text Dilated-Left Ventricular Non-Compaction

WebDec 22, 2024 · Centronuclear myopathy (CNM) is a congenital neuromuscular disorder caused by pathogenic variation in genes associated with membrane trafficking and excitation-contraction coupling (ECC).... WebAug 7, 2014 · Striated muscle preferentially expressed protein kinase (SPEG), the product of SPEG complex locus ( SPEG ), was identified as an MTM1-interacting protein, confirmed by immunoprecipitation and immunofluorescence studies. SPEG knockout has been previously associated with severe dilated cardiomyopathy in a mouse model.

Speg myopathy

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WebOct 18, 2024 · It was discovered in a mouse that SPEG dysfunction produces a myopathy by affecting Ca 2+ current function of the voltage sensor, calcium release from the SR and consequently reducing muscle contractility. 24, 25 Recent studies confirmed that the protein kinase domain II is actually the key domain that controls the Ca 2+ re-uptake through ... WebFeb 28, 2024 · SPEG is associated with JMC proteins, and the expression of SPEG decreases in patients with heart failure. SPEG phosphorylates the JMC protein, JPH2 (junctophilin-2), and is essential for JMC integrity. 9 Adult-onset cardiac-specific SPEG knockout mice showed a dilated cardiomyopathy–like phenotype and died.

WebOct 17, 2024 · Additionally, SPEG has been causally impacted in human genetic diseases such as centronuclear myopathy and dilated cardiomyopathy as well as in common acquired cardiovascular disease such as heart failure and atrial fibrillation. WebMar 26, 2024 · Additionally, SPEG has been causally impacted in human genetic diseases such as centronuclear myopathy and dilated cardiomyopathy as well as in common …

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WebMar 21, 2024 · A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation. Homozygous SPEG …

WebDec 23, 2024 · Centronuclear myopathy (CNM) is a congenital neuromuscular disorder caused by pathogenic variation in genes associated with membrane trafficking and excitation-contraction coupling (ECC). Bi-allelic autosomal recessive mutations in striated muscle enriched protein kinase ( SPEG ) account for a subset of CNM patients. Previous … ethiopian airlines flights to abidjanWebMay 6, 2024 · To our knowledge, the present case is the first description of compound heterozygous SPEG mutations involving a de novo variant and causing dilated-LVNC without neuropathy or centronuclear myopathy. Left Ventricular Non-Compaction (LVNC) is defined by the triad prominent myocardial trabecular meshwork, thin compacted layer, and deep ... ethiopian airlines flight upgradeWebCentronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting ( atrophy) in the skeletal muscles, which are the muscles used for movement. … ethiopian airlines frankfurt bahnhofWebAug 26, 2014 · SPEG mutations results in Centronuclear Myopathy. 26 August 2014. Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased numbers of central nuclei within myofibers. X-linked myotubular myopathy, the most common severe form of CNM, is caused by mutations in MTM1, encoding myotubularin … ethiopian airlines flights to addis ababaWebApr 2, 2024 · SPEG (Striated Preferentially Expressed Protein Kinase), a member of the myosin light chain kinase family, is critical for cardiac and skeletal muscle function involved in excitation-contraction coupling. ethiopian airlines flygschemaWebIn a 6-year-old girl with centronuclear myopathy-5 (CNM5; 615959), Agrawal et al. (2014) identified compound heterozygous mutations in the SPEG gene: a c.4276C-T transition in … fireplace igniter replacementWebMar 26, 2024 · Additionally, SPEG has been causally impacted in human genetic diseases such as centronuclear myopathy and dilated cardiomyopathy as well as in common acquired cardiovascular disease such as heart ... fireplace ignitors