Related Experiment Video

Updated: Jun 1, 2026

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

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Published on: July 15, 2014

[Congenital myopathy with type 1 fiber predominance in two children]

Meng-Chuan Luo1, Qiu-Xiang Li, Wei-Fan Yin

  • 1Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|June 16, 2011
PubMed

Insights

This study details two congenital myopathy cases with type 1 fiber predominance. These findings contribute to understanding rare muscle diseases and their clinical presentations.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Congenital myopathies are a group of rare muscle diseases presenting at birth or during adolescence.
  • Recent reports on specific types like homogeneous bodies myopathy and type 1 fiber predominance lack sufficient data and consistent clinical-pathological features.

Observation:

  • This paper presents two pediatric cases of congenital myopathy characterized by a significant predominance of type 1 muscle fibers.
  • Clinical symptoms included non-progressive muscle weakness, skeletal deformities (e.g., kyphoscoliosis, long face), and specific physical findings like a high palatal arch and winged scapulae.
  • Laboratory results showed normal creatine kinase levels with slightly elevated lactate dehydrogenase.

Findings:

  • Muscle biopsy analysis using ATPase staining revealed that type 1 fibers constituted over 90% of the total muscle fibers in both patients.
  • No other significant pathological alterations, such as central cores, muscle tubes, or central nuclei, were observed, distinguishing these cases from other congenital myopathies.

Implications:

  • These findings highlight type 1 fiber predominance as a distinct pathological hallmark in certain congenital myopathies.
  • Further research is needed to establish consistent clinico-pathological correlations for rare congenital myopathies to improve diagnosis and management.
  • This case report adds valuable data to the limited existing literature on congenital myopathies with type 1 fiber predominance.

More Related Videos

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

Related Concept Videos

Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...
Classification of Skeletal Muscle Fibers01:48

Classification of Skeletal Muscle Fibers

Skeletal muscles continuously produce ATP to provide the energy that enables muscle contractions. Skeletal muscle fibers can be categorized into three types based on differences in their contraction speed and how they produce ATP, as well as physical differences related to these factors. Most human muscles contain all three muscle fiber types, albeit in varying proportions.
Slow-Twitch Muscle Fibers
Slow oxidative, muscle fibers appear red due to large numbers of capillaries and high levels of...
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...
Types of Skeletal Muscle Fibers01:32

Types of Skeletal Muscle Fibers

Skeletal muscles comprise various fibers, each with distinct characteristics and roles in movement and stability. They are mainly categorized into three types — fast-twitch, slow-twitch, and intermediate.
Fast-twitch fibers
Fast-twitch fibers, or Type II fibers, are designed for quick, powerful bursts of speed and strength. They reach peak tension within approximately 0.01 seconds following stimulation. Characterized by a large diameter and densely packed myofibrils, these fibers contain...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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...