KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors [PDF]
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
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Modelling myopathies in zebrafish [PDF]
, 2016 Muscle diseases, or myopathies, are a group of rare congenital diseases that severely incapacitate the patients and in some cases are fatal. Most of these diseases result from mutations in genes that code for proteins of the sarcomere, the contractile ...
Rodrigues Vaz, Raquel
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Fibroblasts derived from nemaline myopathy patients: a useful cellular model for studying the pathophysiological mechanisms implicated in disease's development and for pharmacological screenings [PDF]
, 2021 Motivation: Nemaline myopathy (NM) is one of the most common forms of congenital myopathy and it is identified by the presence of inclusions in muscle fibers called "nemaline bodies" or rods which are considered to be derived from Z lines because they ...
Piñero Pérez, Rocío +2 more
core +1 more source
GENETIC ANALYSIS OF NEUROMUSCULAR DISEASES USING DIFFERENT GENETIC MODELS [PDF]
, 2018 次世代シーケンサーの登場によって，ゲノム医学は長足の進歩を遂げ，疾患責任遺伝子の同定が加速した．遺伝性疾患を考えるとき，その遺伝学的モデルは，単一遺伝子疾患から，rare variant disease，あるいは多因子疾患まで幅広く，加えて疾患特異性を考慮する必要がある．本研究は，最新のゲノム技術を駆使し，様々な遺伝学的モデルを想定して神経筋疾患の遺伝学的解析を行ったものであるが，本稿では，もやもや病発症に関わるRNF213遺伝子のR4810K多型の臨床遺伝学的関連 ...
ミヤタケ, サトコ, 宮武, 聡子
core +1 more source
Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature Review. [PDF]
Cureus, 2023 Mohtisham F +3 more
europepmc +1 more source
Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data. [PDF]
J Child Neurol, 2022 Christophers B +4 more
europepmc +1 more source
Pathogenetic mechanisms and genotype phenotype correlations in nemaline myopathies and related disorders caused by mutations in tropomyosin genes and nebulin [PDF]
, 2014 We collected all mutations in TPM2 and TPM3 genes hitherto found to cause congenital myopathies, to perform genotype-phenotype correlations, and to increase our understanding of the pathogenetic mechanisms of congenital myopathies caused by mutations in ...
Marttila, Minttu
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Síndromes Miasténicos Congénitos en Población Española: Caracterización Clínica, Genética y de su Respuesta Terapéutica [PDF]
, 2017 Los síndromes miasténicos congénitos (SMC) constituyen un grupo clínicamente heterogéneo de enfermedades de causa genética. Se caracterizan por presentar alteraciones en la transmisión neuromuscular por defectos en proteínas localizadas en la unión ...
Natera de Benito, Daniel
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Evaluating proteasome modulation as a therapeutic strategy in nemaline myopathy [PDF]
, 2017 Nemaline myopathy is a subtype of congenital myopathy that is clinically characterized by muscle weakness and early hypotonia of variable severity. Pathologically, nemaline myopathy is characterized by the presence of nemaline rods that stain purple in ...
Wang, Jeffrey C.
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Salidroside ameliorates memory impairment following long-term ethanol intake in rats by modulating the altered intestinal microbiota content and hippocampal gene expression. [PDF]
Front Microbiol, 2023 Jiao Y +9 more
europepmc +1 more source