Mutation spectrum of primary lipid storage myopathies-Reference-Cited by-同舟云学术

Mutation spectrum of primary lipid storage myopathies

Published:2022 Issue:1 Volume:25 Page:106
ISSN:0972-2327
Container-title:Annals of Indian Academy of Neurology
language:en
Short-container-title:Ann Indian Acad Neurol

Author:

Nalini Atchayaram,Vengalil Seena,Polavarapu Kiran,Preethish-Kumar Veeramani,Nashi Saraswati,Arunachal Gautham,Chawla Tanushree,Bardhan Mainak,Mohan Dhaarini,Christopher Rita,Bevinahalli Nandeesh,Kulanthaivelu Karthik,Nishino Ichizo,Faruq Mohammad

Publisher

Medknow

Subject

Neurology (clinical)

Reference36 articles.

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2. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology;Richards;Genet Med,2015

3. Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran?;Nilipour;J Neuro Sci,2020

4. Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency;Grunert;Orphanet J Rare Dis,2014

5. Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome;Vengalil;Neuromuscul Disord,2017

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