The paper is concerned with a clinico-genealogic analysis of 9 patients with the humeroscapular form of Landouzy-Dejerine myodystrophy. The patients come from 4 families united by the common ancestor. The following aspects of the illness are marked: a mild course and considerable clinical polymorphism manifesting itself in the age difference by the disease onset as well as in the intensity of the clinical symptoms. These characteristics are of practical importance for regional medicogenetic counselling.

Download full-text PDF

Source

Publication Analysis

Top Keywords

clinical polymorphism
8
[epidemiology clinical
4
polymorphism humero-scapulo-facial
4
humero-scapulo-facial form
4
form progressive
4
progressive muscular
4
muscular dystrophy]
4
dystrophy] paper
4
paper concerned
4
concerned clinico-genealogic
4

Similar Publications

Detecting CYP2C19 genes through an integrated CRISPR/Cas13a-assisted system.

Anal Methods

January 2025

School of Pharmaceutical Sciences, Sun Yat-Sen University, Guangzhou, 510006, China.

CYP2C19 gene single nucleotide polymorphisms (SNPs) should be considered in the clinical use of clopidogrel as they have important guiding value for predicting the risk of bleeding and thrombosis after clopidogrel treatment. The CRISPR/Cas system is increasingly used for SNP detection owing to its single-nucleotide mismatch specificity. Simultaneous detection of multiple SNPs for rapid identification of the CYP2C19 genotype is important, but there is no method to detect a wide variety of CYP2C19 SNPs.

View Article and Find Full Text PDF

transcription factor AP2-06B is mutated at high frequency in Southeast Asia but does not associate with drug resistance.

Front Cell Infect Microbiol

January 2025

National Health Commission Key Laboratory of Parasitic Disease Control and Prevention, Jiangsu Provincial Key Laboratory on Parasite and Vector Control Technology, Jiangsu Institute of Parasitic Diseases, Wuxi, China.

Introduction: A continuing challenge for malaria control is the ability of to develop resistance to antimalarial drugs. Members within the transcription factor family AP2 regulate the growth and development of the parasite, and are also thought to be involved in unclear aspects of drug resistance. Here we screened for single nucleotide polymorphisms (SNPs) within the AP2 family and identified 6 non-synonymous mutations within AP2-06B (PF3D7_0613800), with allele frequencies greater than 0.

View Article and Find Full Text PDF

Background: Central nervous system tumors are among the most lethal types of cancer. A critical factor for tailored neurosurgical resection strategies depends on specific tumor types. However, it is uncommon to have a preoperative tumor diagnosis, and intraoperative morphology-based diagnosis remains challenging.

View Article and Find Full Text PDF

Background: There are still gaps in the study of the miRNA and its SNPs in some diseases such as non-small cell lung cancer (NSCLC). The study aimed to provide useful information on the treatment of NSCLC by investigating the association between miR-21 and its SNPs and NSCLC susceptibility.

Methods: The serum of NSCLC patients (n = 205) and cancer-free controls (n = 217) were collected in this study for RNA extraction.

View Article and Find Full Text PDF

Background: Migraine is a complex neurological disorder characterized by recurrent episodes of severe headaches. Although genetic factors have been implicated, the precise molecular mechanisms, particularly gene expression patterns in migraine-associated brain regions, remain unclear. This study applies machine learning techniques to explore region-specific gene expression profiles and identify critical gene programs and transcription factors linked to migraine pathogenesis.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!