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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
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Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
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COL4A2 -Related Disorder Presenting in Adulthood With Rhabdomyolysis.

Bukola A Olarewaju1, Judy Tejon2, Shaymaa Shurrab3

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American Journal of Medical Genetics. Part A
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PubMed
Summary
This summary is machine-generated.

This study reports rhabdomyolysis in an adult with COL4A2 gene variants, expanding the known clinical spectrum of COL4A2-related disorders beyond brain malformations to include muscle damage.

Area of Science:

  • Genetics and Molecular Biology
  • Neurology
  • Nephrology

Background:

Keywords:
COL4A2braincollagenmusclerhabdomyolysisvascular

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  • COL4A1 and COL4A2 genes encode type IV collagen chains crucial for vascular basement membranes.
  • Pathogenic variants in COL4A1/COL4A2 are linked to autosomal dominant cerebral angiopathies with diverse neurological manifestations.
  • While COL4A1 variants are associated with rhabdomyolysis in children, this complication has not been reported in human COL4A2-related disorders.