Clinical Manifestation of Nebulin-Associated Nemaline Myopathy.

ABSTRACT:

Background and objectives

Nemaline myopathy (NM) is a genetically heterogeneous inherited myopathy related with at least 12 genes, whereas pathogenic variants in NEB gene are the most common genetic cause. The clinical spectrum of NM caused by NEB pathogenic variants (NM-NEB) is very broad, ranging from mild to severe presentations manifesting with generalized weakness, as well as respiratory and bulbar involvement. There is currently not enough data regarding the progression of the disease. In this study, we present a genotypic and phenotypic spectrum of 33 patients with NM caused by NEB variants (NM-NEB) classified according to age groups and the use of ventilatory support. We focused on interventional support, genotype-phenotype correlation, and association

SUBMITTER: Moreno CAM 

PROVIDER: S-EPMC9879277 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature