[A pedigree of autosomal dominant limb-girdle myopathy with rimmed vacuole formation]

Related Experiment Video

Updated: Oct 23, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

J Kishibayashi, N Sunohara, Y Saito

    Rinsho Shinkeigaku = Clinical Neurology
    |July 1, 1997
    PubMed

    Insights

    This study identifies an autosomal dominant myopathy causing progressive proximal limb muscle weakness. Key findings include rimmed vacuoles in muscle biopsies, suggesting a specific degenerative process in this limb-girdle muscular dystrophy variant.

    Area of Science:

    • Neurology
    • Genetics
    • Pathology

    Background:

    • Autosomal dominant myopathies represent a heterogeneous group of inherited muscle disorders.
    • Limb-girdle muscular dystrophies (LGMDs) are characterized by progressive weakness and atrophy primarily affecting the shoulder and hip girdle muscles.
    • Understanding the genetic and pathological basis of LGMD subtypes is crucial for diagnosis and potential therapeutic strategies.

    Observation:

    • A kindred presented with autosomal dominant myopathy featuring proximal limb muscle weakness, particularly in the lower limbs.
    • Clinical onset was in early adulthood, with slow progression and normal life expectancy.
    • Electromyography revealed mixed myopathic and neuropathic changes, with slightly elevated serum creatine kinase levels and no cardiac involvement.

    Findings:

    • Muscle biopsies from affected individuals showed prominent rimmed vacuoles, indicative of muscle degeneration.
    • A few necrotic muscle fibers were also observed.
    • The clinical and pathological features closely resemble previously reported cases of adult-onset autosomal dominant limb-girdle muscular dystrophy.

    Implications:

    • This description expands the known spectrum of autosomal dominant limb-girdle muscular dystrophies.
    • The presence of rimmed vacuoles may serve as a diagnostic hallmark for this specific myopathy.
    • Further research into the genetic underpinnings and molecular mechanisms of this disorder is warranted for improved patient management.

    More Related Videos

    An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy07:45

    An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

    Published on: October 21, 2014

    Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

    Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

    Published on: August 8, 2022

    Related Concept Videos

    Pedigree Analysis02:21

    Pedigree Analysis

    A pedigree is a diagram displaying a family’s history of a trait. Analyzing pedigrees can reveal (1) whether a trait is dominant or recessive, (2) the type of chromosome, autosomal or sex, a trait is linked to, (3) genotypes of family members, and (4) probabilities of phenotypes in future generations. For families with a history of autosomal or sex-linked diseases, this information can be crucial to family planning.Pedigrees Display Family HistoriesIn various plant and animal species,...
    Intralumenal Vesicles and Multivesicular Bodies01:38

    Intralumenal Vesicles and Multivesicular Bodies

    Intraluminal vesicles (ILVs) are small vesicles 50-80 nm in diameter formed during the maturation of early endosomes. A specialized endosome containing numerous ILVs is called a multivesicular body (MVB). ILVs contain internalized molecules such as antigens, nucleic acids, proteins, and metabolites. Some of these molecules are released from the MVBs inside exosomes and are transported to other cells. Other MVBs contain molecules that are retained in the ILVs and are later degraded within the...
    Lysosomal Hydrolases01:22

    Lysosomal Hydrolases

    Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
    Satellite Stem Cells and Muscular Dystrophy01:21

    Satellite Stem Cells and Muscular Dystrophy

    Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
    Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

    Cardiomyopathy III: Hypertrophic Cardiomyopathy

    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...
    Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

    Cardiomyopathy IV: Restrictive Cardiomyopathy

    Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...