Speg myopathy
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. 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 myopathy
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WebMay 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 ... 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 …
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).... WebMay 9, 2024 · SPEG mutations can cause a skeletal muscle disorder only (i.e. centronuclear myopathy or CNM, blue font), a cardiomyopathy only (e.g. dilated cardiomyopathy, red font) or both (black font), with no clear genotype–phenotype correlation. Note that patient Q2233* died before a cardiac evaluation.
WebSpeg-null mice developed dilated cardiomyopathy associated with a cellular hypertrophic response, myofibril degeneration, and a marked decrease in cardiac function. Speg-null … WebAug 29, 2024 · Taken together, here we describe a novel SPEG mutation c.7119 C > A (p.Y2373*) which causes CNM and expand SPEG-associated phenotypes to neuropathy …
WebApr 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.
WebAug 29, 2024 · 'Striated muscle preferentially expressed protein kinase' (SPEG) is a member of the myosin light chain kinase family that is key for normal cardiac function. … ps5 blinking wont turn offWebJun 28, 2024 · Striated preferentially expressed protein kinase ( SPEG ), a myosin light chain kinase, is mutated in centronuclear myopathy (CNM) and/or dilated cardiomyopathy. No precise therapies are available for this disorder, and gene replacement therapy is not a feasible option due to the large size of SPEG. retreat harroldWebMar 21, 2024 · SPEG (Striated Muscle Enriched Protein Kinase) is a Protein Coding gene. Diseases associated with SPEG include Myopathy, Centronuclear, 5 and Myopathy, Centronuclear, 2 . Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity . retreat hccWebNov 1, 2024 · Recessive mutations in the SPEG gene have been described in recent years and are primarily associated with centronuclear myopathy with cardiomyopathy. In this report, we describe two Brazilian siblings, aged 13 and 6 years, with a novel homozygous mutation (c.8872 C>T:p.Arg2958Ter) in the SPEG gene leading to a congenital myopathy. … ps5 blurryWebSep 1, 2024 · Comparable to DNM2 centronuclear myopathy, SPEG related congenital myopathy shows a relative preservation of the rectus femoris and gracilis at the thigh level, but in DNM2 patients there is an early involvement of tibial anterior muscle not seen in our patient . Histologically SPEG muscle biopsies represent a challenge for the pathologist. ps5 bot githubWebNov 9, 2024 · Introduction: Centronuclear myopathies (CNMs) are a subtype of congenital myopathies (CMs) characterized by muscle weakness, predominant type 1 fibers, and increased central nuclei.SPEG (striated preferentially expressed protein kinase) mutations have recently been identified in 7 CM patients (6 with CNMs). We report 2 additional … retreat hallandWebJul 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 … ps5 bot game