Related Experiment Video
Updated: Aug 8, 2026

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin
Published on: March 24, 2023
Familial neuromuscular disease with tubular aggregates
S Pierobon-Bormioli1, M Armani, S P Ringel
1National Research Council Unit for Muscle Biology and Physiopathology, Institute of General Pathology, University of Padova-ltalia.
Abstract:
We have studied four members of a family in which five individuals of both sexes in three generations have mild weakness and muscle aching. Serum creatine kinase (CK) and/or aldolase were mildly to moderately elevated. Tubular aggregates were present in all patients in all fiber types. Type 1 fiber predominance and type 2 hypotrophy or atrophy was noted in three biopsies. Fiber splitting was prominent in two cases. Electron microscopic studies confirm that the tubular aggregates originate from muscle sarcoplasmic reticulum (SR). The presence of T tubules making contacts with some tubules inside the collection of tubular aggregates is suggestive of their derivation from terminal cisternae.
More Related Videos
Related Concept Videos
Amyloid Fibrils
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid Fibrils
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Huntington Disease l: Introduction
Alterations in Muscle Tone lll
Myasthenia Gravis ll: Pathophysiology
Disorders of the Skeletal Muscle
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...

