Open AccessNemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review
Author(s) -
Kiran Polavarapu,
Mainak Bardhan,
Ram Murthy Anjanappa,
Seena Vengalil,
Veeramani PreethishKumar,
Leena Shingavi,
Tanushree Chawla,
Saraswati Nashi,
Dhaarini Mohan,
Gautham Arunachal,
Thenral S. Geetha,
Ramprasad Vedam,
Atchayaram Nalini
Publication year - 2021
Publication title -
journal of clinical neurology/the journal of clinical neurology
Language(s) - English
Resource type - Journals
eISSN - 2005-5013
pISSN - 1738-6586
DOI - 10.3988/jcn.2021.17.3.409
Subject(s) - medicine , congenital myopathy , exome sequencing , nemaline myopathy , myopathy , muscle biopsy , magnetic resonance imaging , proband , weakness , compound heterozygosity , facial weakness , pediatrics , surgery , biopsy , radiology , mutation , genetics , biology , gene
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.