Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature

21 Mar 2011

Abstract excerpt

AIM: Hypotonia is a symptom of diminished tone of skeletal muscle associated with decreased resistance of muscles to passive stretching, which can be caused by abnormalities of the central nervous system, any element of the lower motoneuron, or both. Hypotonia is not a specific diagnosis, but can be part of over 500 different genetic disorders, with many other conditions waiting to be identified. This review...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genomics and Rare Diseases
Share to Hereditary Neurological Disorders
Share to Neurogenetic and Muscular Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 21418198
DOI: 10.1111/j.1469-8749.2011.03918.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literaturePMID 21418198Read ↗

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A ReviewSemantic proximity Read ↗

Approach to the diagnosis of congenital myopathies.Semantic proximity Read ↗

Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.Semantic proximity Read ↗

Diagnostic approach to paediatric movement disorders: a clinical practice guide.Semantic proximity Read ↗

Phenotypic and Genetic Complexity in Pediatric Movement DisordersSemantic proximity Read ↗

Recent advances in understanding congenital myopathiesSemantic proximity Read ↗

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.Semantic proximity Read ↗

A framework for the evaluation of patients with congenital facial weaknessSemantic proximity Read ↗

The genetics of congenital myopathies.Semantic proximity Read ↗

Dystonia genotypes, phenotypes, and classification.Semantic proximity Read ↗

Intellectual disability in paediatric patients with genetic muscle diseases.Semantic proximity Read ↗

Congenital Myasthenic Syndromes in 2018.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.