Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

2.0K
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...
2.0K
Cross-bridge Cycle01:26

Cross-bridge Cycle

117.5K
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.
117.5K
Pleiotropy01:33

Pleiotropy

40.5K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.5K
Lethal Alleles02:41

Lethal Alleles

15.5K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.5K
ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

14.6K
In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased...
14.6K
Sex-linked Disorders01:43

Sex-linked Disorders

102.2K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.2K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Lead encephalopathy mimicking as acute encephalitis syndrome in a child.

BMJ case reports·2026
Same author

Wilson's disease presenting as osmotic demyelination syndrome.

The National medical journal of India·2026
Same author

Myostatin Signaling in Skeletal Muscle: Implications for Athletic Performance.

Comprehensive Physiology·2026
Same author

Oromotor Dyskinesia and Emotional Lability Masquerading as Anti-NMDA Receptor Encephalitis.

Indian journal of pediatrics·2026
Same author

Novel PEX7 gene variant-associated rhizomelic chondrodysplasia punctata type 1: a clinico-radio-biochemical diagnosis.

BMJ case reports·2026
Same author

Neurotuberculosis Presenting as Acute Flaccid Paralysis.

Indian journal of pediatrics·2026

Related Experiment Video

Updated: Jul 8, 2025

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
07:02

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

13.4K

ASAH1 Variants Causing Spinal Muscular Atrophy Phenotype.

Arvinder Wander1, Ankit Kumar Meena1, Pawan Kumar Ghangoriya1

  • 1Division of Child Neurology, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India.

Indian Journal of Pediatrics
|December 11, 2023
PubMed
Summary

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare genetic disorder. This study reports a novel ASAH1 gene variant in a patient with SMA-PME, expanding the understanding of this condition.

Keywords:
ASAH1 geneCeramidaseMyoclonic epilepsySpinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)

More Related Videos

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
07:33

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

Published on: May 21, 2010

35.8K
Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction
10:41

Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction

Published on: May 12, 2016

8.2K

Related Experiment Videos

Last Updated: Jul 8, 2025

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
07:02

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

13.4K
A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
07:33

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

Published on: May 21, 2010

35.8K
Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction
10:41

Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction

Published on: May 12, 2016

8.2K

Area of Science:

  • Genetics and Neurology
  • Rare genetic disorders
  • Neurodegenerative diseases

Background:

  • Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disorder.
  • Mutations in the ASAH1 gene are the known cause of SMA-PME.
  • Characterized by progressive muscle weakness, epilepsy, and cognitive decline.

Observation:

  • A case of a 9-year-old boy with SMA-PME presenting with progressive proximal weakness and lower motor neuron disease.
  • Whole exome sequencing (WES) identified compound heterozygous missense variants in the ASAH1 gene.
  • The patient lacked cognitive decline and epilepsy, with normal EEG findings.

Findings:

  • Identification of novel compound heterozygous missense variants in the ASAH1 gene (chr8: g.18059385G>C and chr8: g.18075542T>C).
  • These variants are associated with SMA-PME, expanding the mutational spectrum of the ASAH1 gene.
  • The presented case expands the clinical phenotype of SMA-PME, as the patient did not exhibit epilepsy or cognitive decline.

Implications:

  • This report contributes to the understanding of the genetic basis of SMA-PME.
  • Highlights the importance of WES in diagnosing rare genetic disorders.
  • Suggests potential variability in the clinical presentation of SMA-PME, even with ASAH1 mutations.