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Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

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Related Experiment Video

Updated: Jun 23, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Novel FHL1 Mutation Associated With Reducing Body Myopathy.

Kyle W Ruffing1, Marie Rivera-Zengotita2, Lee Kugelmann1

  • 1Neurology, University of Florida, Gainesville, USA.

Cureus
|June 22, 2026
PubMed
Summary
This summary is machine-generated.

Reducing body myopathy (RBM), a rare genetic disorder, was potentially diagnosed in a female patient. Repeating muscle biopsy confirmed a link between her symptoms and a specific FHL1 gene variant, expanding RBM

Area of Science:

  • Neurology
  • Genetics
  • Muscle Diseases

Background:

  • Reducing body myopathy (RBM) is a rare X-linked myopathy.
  • It is caused by mutations in the FHL1 gene.
Keywords:
adult-onset myopathyelectron microscopyfhl1muscle biopsynovel variantreducing body myopathy

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  • Characterized by intracytoplasmic aggregates impacting muscle tissue.