LAUSR

TNNT1 myopathy with novel compound heterozygous mutations

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1 Published in 2022 at "Neuromuscular Disorders"

DOI: 10.1016/j.nmd.2021.12.003

Abstract: Nemaline myopathies are clinically and genetically heterogeneous disorders caused by several different genes. One of them is TNNT1, which was initially described in Amish families and has not been reported in Asian populations. Although most… read more here.

Keywords: compound heterozygous; muscle; tnnt1 myopathy; heterozygous mutations ... See more keywords