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Whole‐exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations
Author(s) -
Sanga Shamita,
Ghosh Arnab,
Kumar Krishna,
Polavarapu Kiran,
PreethishKumar Veeramani,
Vengalil Seena,
Nashi Saraswati,
Bardhan Mainak,
Arunachal Gautham,
Raju Sanita,
Gayathri Narayanappa,
Biswas Nidhan K.,
Chakrabarti Saikat,
Nalini Atchayaram,
Roy Sudipto,
Acharya Moulinath
Publication year - 2021
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.14616
Subject(s) - congenital muscular dystrophy , missense mutation , exome sequencing , medicine , titin , genetic heterogeneity , genetics , genetic testing , lmna , muscular dystrophy , congenital myopathy , bioinformatics , genetic counseling , mutation , in silico , myopathy , gene , pathology , phenotype , biology , muscle biopsy , sarcomere , biopsy , myocyte
To our knowledge, this is the first comprehensive mutational analyses in congenital muscular dystrophy (CMD) and congenital myopathy (CM) patients from India. Importantly, these findings allowed us to achieve accurate genetic diagnosis of CMD ( n = 12/22, 54%) and CM ( n = 5/14, 34%) cases, which was difficult using conventional diagnostic tools. Transferring these whole‐exome sequencing analyses findings to clinical practice will help guide clinical care of the affected patients and inform genetic counselling.