Results 21 to 30 of about 132 (72)
A KLHL40 3 ' UTR splice-altering variant causes milder NEM8
, 2022 Nemaline myopathy 8 (NEM8) is typically a severe autosomal recessive disorder associated with variants in the kelch-like family member 40 gene (KLHL40). To date, only protein-altering pathogenic variants in KLHL40 have been implicated in NEM8.
Ravenscroft, G. +13 more
core +1 more source
Genetics Research , Volume 2022, Issue 1, 2022., 2022 Wilms tumor (WT) is the most common genitourinary renal tumor that typically occurs in children under 15 and is thought to be linked to somatic and germline mutations. However, the specific functional role of competing endogenous RNAs (ceRNAs) and their potential implications in WT remain unclear.
Biao An, Yuan Hu, Xiao Liang, Yaying Sun
wiley +1 more source
KLHL40 mutation associated with severe nemaline myopathy, fetal akinesia, and cleft palate
Journal of Pediatric Neurosciences, 2019 The congenital myopathies are a heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscular weakness, hypotonia, and developmental delay.
Kapil K Avasthi +2 more
doaj +1 more source
, 2022 Additional file 1. Table S1. Estimated pathogenic variants in KLHL40 in our local database on ACMG guidelines. Table S2.
Peiqing He (8887478) +7 more
core +1 more source
Developing cellular models for human myopathies [PDF]
, 2023 Recent advancements in genetics and technology have led to a greater understanding of the roles of different skeletal muscle proteins in a disease context.
Kim, Euri
core +1 more source
Investigating Genetic Causes of Mendelian Congenital Myopathies [PDF]
, 2022 This thesis investigates the genetic aetiology of congenital myopathy in families with an unresolved genetic diagnosis. In two families, massively parallel sequencing and functional analyses identified two genetic candidates: a regulatory variant (c ...
Lein Dofash (23517988)
core +1 more source
Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu +4 more
wiley +1 more source
Medicine Bulletin, Volume 2, Issue 2, Page 167-183, March 2026.ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang +3 more
wiley +1 more source
Congenital myopathies are a group of inherited muscle disorders characterized by hypotonia, weakness and a non-dystrophic muscle biopsy with the presence of one or more characteristic histological features.
Nascimento A +11 more
core +4 more sources
Status Dystonicus in Children: Is it more Common than we Realize?
Movement Disorders Clinical Practice, Volume 12, Issue 10, Page 1629-1634, October 2025.Abstract Background Status dystonicus (SD) is the most severe form of dystonia, affecting predominantly children. SD is thought to be rare, but the incidence is unknown. Objective We aimed to: (1) assess the number of admissions involving SD (2) describe complications/intensive care unit (ICU) transfers, and (3) evaluate whether these changed with ...
Nadia Al Azri +6 more
wiley +1 more source