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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

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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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In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased ATP...
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Mitochondrial precursors are translocated to the internal subcompartments via independent mechanisms involving distinct protein machineries called translocases.
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Translation Produces the Building Blocks of Life

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Related Experiment Video

Updated: Jun 22, 2026

Tissue Triage and Freezing for Models of Skeletal Muscle Disease
05:58

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Published on: July 15, 2014

A TPM3 mutation causing cap myopathy.

Andre Maues De Paula1, Jerome Franques, Carla Fernandez

  • 1Department of Anatomic Pathology and Neuropathology, C.H.U. Timone, Marseille, France. Andre.MauesDePaula@ap-hm.fr

Neuromuscular Disorders : NMD
|June 26, 2009
PubMed
Summary
This summary is machine-generated.

Cap disease, a rare congenital myopathy, is detailed in a case study of a 42-year-old man. This study identifies a novel TPM3 gene mutation, expanding the known genetic causes of myopathies.

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Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Cap disease is a rare congenital myopathy characterized by skeletal and respiratory issues.
  • The defining feature is abnormally arranged myofibrils resembling a 'cap'.

Observation:

  • A 42-year-old man with no family history presented with symptoms of cap disease.
  • His initial biopsy at age 7 revealed selective type I fiber hypotrophy.

Findings:

  • The patient was found to have a p.Arg168His mutation in the TPM3 gene.
  • TPM3 gene mutations are typically associated with nemaline myopathy and congenital fiber type disproportion, not previously with cap disease.

Implications:

  • This finding suggests TPM3 gene mutations can cause cap disease.
  • It expands the spectrum of TPM3-related myopathies and may inform future genetic diagnostics.