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Related Concept Videos

Muscles of the Eye01:20

Muscles of the Eye

The muscles of the eye are sophisticated structures that control eye movement and focus, allowing for the precise and rapid adjustments necessary for vision. The human eye is controlled by ten muscles — six extraocular muscles, three intraocular muscles, and one primary eyelid retractor muscle.
Extraocular Muscles
The six extraocular muscles surround the eyeball and control its movements. They are responsible for a wide range of eye motions, including looking up, down, left, right, and rotating...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
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...
Cross-bridge Cycle01:26

Cross-bridge Cycle

As muscle contracts, the overlap between the thin and thick filaments increases, decreasing the length of the sarcomere—the contractile unit of the muscle—using energy in the form of ATP. At the molecular level, this is a cyclic, multistep process that involves binding and hydrolysis of ATP, and movement of actin by myosin.
Accessory Structures of the Eye01:17

Accessory Structures of the Eye

Optical perception, or vision, is an extraordinary sense dependent on converting light signals received via the ocular organs. These organs, known as eyes, are securely positioned within the bony cavities of the skull, called orbits. The orbits serve a dual purpose: a protective shield for the ocular globes and a stable attachment point for the soft ocular tissues. The eye's external protective mechanisms include the eyelids, which are edged with lashes that act as a barrier against foreign...
Myasthenia Gravis ll: Pathophysiology01:22

Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...
The Blood-brain Barrier00:49

The Blood-brain Barrier

Overview

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Related Experiment Video

Updated: Jun 15, 2026

Analysis of Skeletal Muscle Defects in Larval Zebrafish by Birefringence and Touch-evoke Escape Response Assays
08:01

Analysis of Skeletal Muscle Defects in Larval Zebrafish by Birefringence and Touch-evoke Escape Response Assays

Published on: December 13, 2013

Muscle-Eye-Brain disease.

Anant M Shenoy1, Jennifer A Markowitz, Carsten G Bonnemann

  • 1Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.

Journal of Clinical Neuromuscular Disease
|March 11, 2010
PubMed
Summary
This summary is machine-generated.

A rare genetic disorder, Muscle-Eye-Brain (MEB) disease, was diagnosed in an infant presenting with global developmental delay and visual impairment. Genetic testing identified mutations in the POMGnT1 gene, confirming the diagnosis.

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Muscle-Eye-Brain (MEB) disease is a rare congenital disorder affecting both the central and peripheral nervous systems.
  • It presents with a spectrum of neurological and developmental abnormalities.

Observation:

  • A term infant exhibited global developmental delay, hypotonia, hyporeflexia, generalized weakness, and visual impairment with optic nerve hypoplasia.
  • Investigations included laboratory studies, muscle biopsy, brain MRI, and genetic testing.

Findings:

  • Elevated serum CK, abnormal brain structure, and dystrophic muscle biopsy with a glycosylation defect in the alpha-dystroglycan complex were observed.
  • Genetic analysis revealed three heterozygous missense mutations in the POMGnT1 gene.

Implications:

  • These findings confirm the diagnosis of Muscle-Eye-Brain (MEB) disease.
  • This case highlights the importance of comprehensive investigation for diagnosing rare congenital disorders.
  • Further research into MEB disease and related congenital disorders is warranted.