Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review

BACKGROUND AND PURPOSE: Pathogenic variants in the myopalladin gene (MYPN) are known to cause mildly progressive nemaline/cap myopathy. Only nine cases have been reported in the English literature. METHODS: A detailed evaluation was conducted of the clinical, muscle magnetic resonance imaging (MRI),...

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Bibliografske podrobnosti
izdano v:J Clin Neurol
Main Authors: Polavarapu, Kiran, Bardhan, Mainak, Anjanappa, Ram Murthy, Vengalil, Seena, Preethish-Kumar, Veeramani, Shingavi, Leena, Chawla, Tanushree, Nashi, Saraswati, Mohan, Dhaarini, Arunachal, Gautham, Geetha, Thenral S., Ramprasad, Vedam, Nalini, Atchayaram
Format: Artigo
Jezik:Inglês
Izdano: Korean Neurological Association 2021
Teme:
Original Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC8242322/
https://ncbi.nlm.nih.gov/pubmed/34184449
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3988/jcn.2021.17.3.409
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