نتایج جستجو برای: central hypotonia
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Mutations in the phosphatidylinositol 4,5-bisphosphate (PtdIns4,5P(2)) 5-phosphatase OCRL cause Lowe syndrome, which is characterised by congenital cataracts, central hypotonia, and renal proximal tubular dysfunction. Previous studies have shown that OCRL interacts with components of the endosomal machinery; however, its role in endocytosis, and thus the pathogenic mechanisms of Lowe syndrome, ...
We report a Kuwaiti girl with ethylmalonic encephalopathy. She presented at the age of 4 months with chronic mucoid diarrhea and delayed psychomotor development, and at 6 months she developed myoclonic epilepsy. She was found to have central hypotonia with pyramidal tract signs, acrocyanosis, and petechiae. Plasma lactate level was elevated. Blood spot and urine for organic acids results were c...
BACKGROUND Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METHODS We present a patient with global developmental delay, hypotonia, myopathy, joint hypermobility, and multiple ot...
INTRODUCTION X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT Second child born to he...
Prader-Willi syndrome (PWS) is a genetic neurodevelopmental disorder that presents with hypotonia and respiratory distress in neonates. The Necdin-deficient mouse is the only model that reproduces the respiratory phenotype of PWS (central apnea and blunted response to respiratory challenges). Here, we report that Necdin deletion disturbs the migration of serotonin (5-HT) neuronal precursors, le...
A protein kinase domain, a Rhodanase-like and the Tre-2/Bub2/Cdc16 (TBC) domain are all encoded by TBCK gene. By modulating mammalian target of rapamycin (mTOR) signaling pathway, is hypothesized to play role in actin organization, cell growth, proliferation. Has organization cytoskeleton.
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