Related Experiment Video

Updated: Jan 23, 2026

Author Spotlight: Advanced Integrated Model for Sepsis-Induced Myopathy and Single-Cell Metabolic Analysis
04:01

Author Spotlight: Advanced Integrated Model for Sepsis-Induced Myopathy and Single-Cell Metabolic Analysis

Published on: June 14, 2024

1.4K

X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?

Per-Ole Carstens1, Eva Maria Christina Schwaibold1, Katharina Schregel1

  • 1Department of Neurology (P.-O.C., J.S.), University Medical Center Göttingen; Institute of Human Genetics (E.M.C.S., S.P.), University Medical Center Göttingen; Institute of Human Genetics (E.M.C.S.), Heidelberg University; Department of Neuroradiology (K.S.), University Medical Center Göttingen; CeGaT GmbH and Praxis für Humangenetik Tübingen (C.D.O.); Institute of Neuropathology (A.W., S.Z.), University Medical Center Göttingen; and Institute of Neuropathology, Saarland University Medical Center (A.W.), Homburg; and Institute of Human Genetics (S.P.), University Medical Center Göttingen, Germany.

Neurology. Genetics
|June 14, 2019
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

Sterile Pericarditis in Aachener Minipigs As a Model for Atrial Myopathy and Atrial Fibrillation08:56

Sterile Pericarditis in Aachener Minipigs As a Model for Atrial Myopathy and Atrial Fibrillation

Published on: September 24, 2021

3.1K
International Expert Consensus and Recommendations for Neonatal Pneumothorax Ultrasound Diagnosis and Ultrasound-guided Thoracentesis Procedure05:50

International Expert Consensus and Recommendations for Neonatal Pneumothorax Ultrasound Diagnosis and Ultrasound-guided Thoracentesis Procedure

Published on: March 12, 2020

14.6K

Related Concept Videos

Pneumothorax-I01:26

Pneumothorax-I

A pneumothorax is a condition where air builds up in the space between the lung and the chest wall, causing the lung to collapse. This condition arises when air enters the space between the parietal and visceral pleura, disrupting the negative pressure essential for lung inflation. This can lead to a partial or complete collapse of the lung.
Pneumothorax can be even further classified as spontaneous, traumatic, and tension pneumothorax.
1.2K
Pneumothorax-II01:27

Pneumothorax-II

Pneumothorax is a medical condition defined by the buildup of air in the pleural space between the lungs and the chest wall. This accumulation of air can lead to partial or complete lung collapse, resulting in a range of clinical manifestations. Understanding the clinical presentation and effective management strategies is crucial for healthcare professionals in providing timely and appropriate care to individuals with pneumothorax.
Clinical Manifestations:
953
Spontaneity02:21

Spontaneity

A spontaneous process is one that occurs naturally under certain conditions. A nonspontaneous process, on the other hand, will not take place unless it is “driven” by the continual input of energy from an external source. Processes have a natural tendency to occur in one direction under a given set of conditions. Water will naturally flow downhill (spontaneous process), but uphill flow (nonspontaneous process) requires outside intervention such as the use of a pump. Iron exposed to...
28.9K
Covalently Linked Protein Regulators02:04

Covalently Linked Protein Regulators

Proteins can undergo many types of post-translational modifications, often in response to changes in their environment. These modifications play an important role in the function and stability of these proteins. Covalently linked molecules include functional groups, such as methyl, acetyl, and phosphate groups, and also small proteins, such as ubiquitin. There are around 200 different types of covalent regulators that have been identified.
These groups modify specific amino acids in a protein....
8.8K
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
58.3K
Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
2.1K