Myopathy News and Research

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The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps).

Novel molecular pathway shared by ALS and frontotemporal dementia identified

Novel molecular pathway shared by ALS and frontotemporal dementia identified

Scientists from two independent research teams have discovered how the mislocalization of a protein, known as TDP-43, alters the genetic instructions for UNC13A, providing a possible therapeutic target that could also have implications in treating amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and other forms of dementia.

1 Mar 2022

Scientists observe first high-resolution 3D image of muscle protein nebulin

Scientists observe first high-resolution 3D image of muscle protein nebulin

Skeletal and heart muscle owe their function as stable biological machines to the outstanding accuracy with which their sarcomeres are assembled.

22 Feb 2022

Genetic testing underutilized in patients with cardiomyopathies and arrhythmias, study says

Genetic testing underutilized in patients with cardiomyopathies and arrhythmias, study says

Heart failure and arrhythmia conditions are often considered as separate disorders, but genetic testing suggests there is much more overlap of these disorders than previously appreciated.

11 Nov 2021

Study offers renewed hope for children suffering from myofibrillar myopathies

Study offers renewed hope for children suffering from myofibrillar myopathies

Stephen Greenspan and Laura Zah were devastated when they learned their son Alexander had a rare genetic mutation, which causes a deadly neuromuscular disease with no known treatment or cure.

15 Oct 2020

Study reveals molecular mechanism that regulates filament-like proteins in heart muscles

Study reveals molecular mechanism that regulates filament-like proteins in heart muscles

Heart muscle cells contain filament-like proteins that should have the same precise length, so that they can perfectly synchronize.

15 Oct 2020

Study explains why human mitochondrial genomes mutate frequently

Study explains why human mitochondrial genomes mutate frequently

One could say that mitochondria, the energy-producing organelles inside every human cell, dance to their own beat.

10 Jul 2020

New study outlines the mechanisms behind cell fusion

New study outlines the mechanisms behind cell fusion

Scientists have known for a decade that cells that fuse with others to perform their essential functions - such as muscle cells that join together to make fibers - form long projections that invade the territory of their fusion partners.

28 May 2020

Patients with chronic myopathy can benefit from cell-aging drug and exercise

Patients with chronic myopathy can benefit from cell-aging drug and exercise

According to a researcher from Hokkaido University and collaborators from Japan-based Sapporo Medical University, exercise can boost strength in muscle-degenerating disorders only when aging occurs in a certain type of muscle cell.

1 Apr 2020

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