Article
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.
European journal of human genetics : EJHG - 1 Nov 2023
Haghighi Alireza, Alvandi Zahra, Nilipour Yalda, Haghighi Amirreza, Kornreich Ruth, Nafissi Shahriar, Desnick Robert J
Abstract excerpt
Nemaline myopathy (NM) is a heterogeneous genetic neuromuscular disorder characterized by rod bodies in muscle fibers resulting in multiple complications due to muscle weakness. NM patients and their families could benefit from genetic analysis for early diagnosis, carrier and prenatal testing; however, clinical classification of variants is subject to change as further information becomes available....
Topics
- Humans
- Myopathies, Nemaline
- Mutation
- Genetic Testing
- RNA Splicing
- Heterozygote