Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome

Autor: Mainak, Bardhan, Kiran, Polavarapu, Nandeesh N, Bevinahalli, Preethish-Kumar, Veeramani, Ram Murthy, Anjanappa, Gautham, Arunachal, Leena, Shingavi, Seena, Vengalil, Saraswati, Nashi, Tanushree, Chawla, Divya, Nagabushana, Dhaarini, Mohan, Rita, Horvath, Ichizo, Nishino, Nalini, Atchayaram

Publikováno v: Journal of human genetics. 66(8)

Megaconial congenital muscular dystrophy (CMD)(OMIM #602541), related to CHKB mutation, is a rare autosomal recessive disorder. To date, only 35 confirmed patients are recorded. We present a detailed description of the clinical, histopathological, im

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8ecdf2aa55cbd532b0efbc6f3ef80975
https://pubmed.ncbi.nlm.nih.gov/33767318

Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.

Autor: Chawla T; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India., Nashi S; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India., Baskar D; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India., Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Vengalil S; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India., Bardhan M; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India., Preethish-Kumar V; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India., Sukrutha R; Department of Human Genetics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India., Unnikrishnan G; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India., Huddar A; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India., Padmanabha H; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India., Anjanappa RM; Department of Human Genetics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India., Bevinahalli N; Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, 560029, India., Nittur V; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India., Rajanna M; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India., Arunachal Udupi G; Department of Human Genetics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India., Nalini A; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India. atchayaramnalini@yahoo.co.in.

Publikováno v: Neurogenetics [Neurogenetics] 2024 Oct; Vol. 25 (4), pp. 435-469. Date of Electronic Publication: 2024 Aug 05.

Mutation Spectrum of Primary Lipid Storage Myopathies.

Autor: Vengalil S; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India., Polavarapu K; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India., Preethish-Kumar V; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India., Nashi S; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India., Arunachal G; Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India., Chawla T; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India., Bardhan M; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India., Mohan D; Department of Neurology, Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India., Christopher R; Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India., Bevinahalli N; Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India., Kulanthaivelu K; Department of Neuroimaging and Interventional Neuroradiology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India., Nishino I; Department of Neuromuscular Research, National Centre of Neurology and Psychiatry, Kodaira, Tokyo, Japan., Faruq M; Department of Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Delhi, India., Nalini A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

Publikováno v: Annals of Indian Academy of Neurology [Ann Indian Acad Neurol] 2022 Jan-Feb; Vol. 25 (1), pp. 106-113. Date of Electronic Publication: 2022 Feb 01.

Streptococcus pluranimalium: Emerging Animal Streptococcal Species as Causative Agent of Human Brain Abscess.

Autor: Maher G; Department of Neuromicrobiology, NIMHANS, Bangalore, Karnataka, India., Beniwal M; Department of Neurosurgery, NIMHANS, Bangalore, Karnataka, India., Bahubali V; Department of Neuromicrobiology, NIMHANS, Bangalore, Karnataka, India., Biswas S; Department of Neuroimaging and Interventional Radiology, NIMHANS, Bangalore, Karnataka, India., Bevinahalli N; Department of Neuropathology, NIMHANS, Bangalore, Karnataka, India., Srinivas D; Department of Neurosurgery, NIMHANS, Bangalore, Karnataka, India., Siddaiah N; Department of Neuromicrobiology, NIMHANS, Bangalore, Karnataka, India. Electronic address: nagarathnachandrashekar@gmail.com.

Publikováno v: World neurosurgery [World Neurosurg] 2018 Jul; Vol. 115, pp. 208-212. Date of Electronic Publication: 2018 Apr 22.