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[Genetic analysis of a patient with Rod-shaped myopathy due to variants of NEB gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2024
Fujian Children's Hospital (Shanghai Children's Medical Center Fujian Hospital), Fuzhou, Fujian 350011, China.
Article Synopsis
- - The study aimed to investigate the genetic cause of Nemaline myopathy in a 2-month-old girl who presented with symptoms like persistent phlegm and muscle tone reduction.
- - Whole exome sequencing revealed that the child carried two harmful variants of the NEB gene, inherited from her asymptomatic parents, confirming a diagnosis of rod-like myopathy.
- - The findings enhance understanding of the child's condition and provide important information for her family's genetic counseling and reproductive choices.
Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.
HGG Adv
September 2024
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:
Biallelic pathogenic variants in the gene encoding nebulin (NEB) are a known cause of congenital myopathy. We present two brothers with congenital myopathy and compound heterozygous variants (NC_000002.12:g.
View Article and Find Full Text PDFMyosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle.
J Physiol
October 2024
Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.
Nemaline myopathy (NM) is a genetic muscle disease, primarily caused by mutations in the NEB gene (NEB-NM) and with muscle myosin dysfunction as a major molecular pathogenic mechanism. Recently, we have observed that the myosin biochemical super-relaxed state was significantly impaired in NEB-NM, inducing an aberrant increase in ATP consumption and remodelling of the energy proteome in diseased muscle fibres. Because the small-molecule Mavacamten is known to promote the myosin super-relaxed state and reduce the ATP demand, we tested its potency in the context of NEB-NM.
View Article and Find Full Text PDFNemaline Myopathy With a Compound Heterozygous Mutation: A Case Report.
Cureus
July 2024
Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
A class of genetically based congenital myopathies known as nemaline myopathies is defined by the development of nemaline rods within muscle fibers. We present a case involving an eight-year-old boy who presented with a history of delayed motor development, proximal muscle weakness, and neck flexor weakness. Muscle enzymes were normal, and electrophysiological studies revealed a myopathic pattern.
View Article and Find Full Text PDFL-tyrosine for treatment of an infant with nemaline rod myopathy.
BMJ Case Rep
June 2024
Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
Nemaline rod myopathy is an extremely rare muscle disease responsible for hypotonia and poor muscle strength in infants. The disease has variable phenotypic presentations across different ages, ranging from neonatal to the adult onset and from severe to asymptomatic varieties. Clinical features, muscle biopsy and genetic testing help in diagnosis.
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