Speg myopathy

Author: tfsz

August undefined, 2024

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. 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.

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

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

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

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 ... 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 acquired cardiovascular disease such as heart ... WebAug 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 … thibault touiller

Novel SPEG Mutations in Congenital Myopathy without

X-Linked Myotubular Myopathy - Symptoms, Causes, Treatment NORD

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).... WebSep 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. thibault tinieWebNov 9, 2024 · SPEG (striated preferentially expressed protein kinase) mutations have recently been identified in 7 CM patients (6 with CNMs). We report 2 additional patients … thibault toulemonde foncia

"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. … " - Speg myopathy

Speg myopathy

National Center for Biotechnology Information

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... WebNov 1, 2024 · SPEG mutations have been described primarily associated with centronuclear myopathy. • • Clinically, most of the patients with SPEG mutations show the association of …

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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 23, 2024 · SPEG, a member of the myosin light chain kinase family, is localized at the level of triad surrounding myofibrils in skeletal muscles. In humans, SPEG mutations are associated with... 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 · 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 … WebAug 12, 2024 · Summary This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region.

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.

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 … sager lofts in old fourth wardWebNational Center for Biotechnology Information thibault tornabeneWebSpeg-null mice developed dilated cardiomyopathy associated with a cellular hypertrophic response, myofibril degeneration, and a marked decrease in cardiac function. Speg-null … thibault torossianWebNational Center for Biotechnology Information sager notebook promotional codeWebFeb 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. thibault torrellesWebJul 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 … thibault top chef restaurantWebOct 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 ... sager motherboard