Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Multipoint mapping of the central core disease locus

S Schwemmle¹, K Wolff, L M Palmucci

¹Institut für Humangenetik Universität, Würzburg, Germany.

|July 1, 1993

Summary

Genetic linkage analysis identified the central core disease (CCO) locus on chromosome 19q13.1, implicating the ryanodine receptor (RYR1) gene. This study found no evidence of genetic heterogeneity in CCO.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Metrology-Assisted Production in Agriculture and Forestry.

Sensors (Basel, Switzerland)·2024

Same author

Poly(vinyl alcohol) freeze casts with nano-additives as potential thermal insulators.

Scientific reports·2023

Same author

Resistance exercise training ameliorates chronic kidney disease outcomes in a 5/6 nephrectomy model.

Life sciences·2021

Same author

Link between packing morphology and the distribution of contact forces and stresses in packings of highly nonconvex particles.

Physical review. E·2021

Same author

EAU-ESMO consensus statements on the management of advanced and variant bladder cancer-an international collaborative multi-stakeholder effort: under the auspices of the EAU and ESMO Guidelines Committees†.

Annals of oncology : official journal of the European Society for Medical Oncology·2019

Same author

Aerobic exercise training prevents kidney lipid deposition in mice fed a cafeteria diet.

Life sciences·2018

Area of Science:

Genetics
Molecular Biology
Neuromuscular Disorders

Background:

Central core disease (CCO) is a congenital myopathy.
The genetic basis of CCO requires further elucidation.
Previous studies suggested potential candidate genes.

Purpose of the Study:

To perform linkage analysis in families with CCO.
To identify the chromosomal locus for CCO.
To investigate the role of the ryanodine receptor (RYR1) gene.

Main Methods:

Linkage analysis using 12 DNA markers in eight families.
Two-point and multipoint linkage analyses were conducted.
Statistical analysis of genetic markers and the RYR1 gene.

Related Experiment Videos

Main Results:

A peak lod score of Z=4.95 was obtained for marker D19S190.
A lod score of Z=2.53 was observed for the RYR1 gene.
The CCO locus was mapped to 19q13.1, including the RYR1 gene.

Conclusions:

The CCO locus is confirmed at 19q13.1.
The RYR1 gene is strongly implicated in CCO.
No evidence for genetic heterogeneity in CCO was found.