Article
A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein.
Journal of molecular neuroscience : MN - 1 Dec 2021
Santhoshkumar Rashmi, Preethish-Kumar Veeramani, Polavarapu Kiran, Reghunathan Dinesh, Chaudhari Sima, Satyamoorthy Kapaettu, Vengalil Seena, Nashi Saraswati, Faruq Muhammed, Joshi Aditi, Atchayaram Nalini, Narayanappa Gayathri
Abstract excerpt
Desminopathies (MIM*601419) are clinically heterogeneous, manifesting with myopathy and/or cardiomyopathy and with intra-sarcoplasmic desmin-positive deposits. They have either an autosomal dominant (AD) or recessive (AR) pattern of inheritance. Desmin is a crucial intermediate filament protein regulating various cellular functions in muscle cells. Here, we report a 13-year-old girl, born of second-degree...
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