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

Clinical Features in Children with Persistent Toe Walking Who Carry Heterozygous PYGM Variants: A Cross-Sectional Study.

Journal of musculoskeletal & neuronal interactions - 1 Mar 2026

Pomarino David, Fregien Bastian, Rostásy Kevin M

Abstract excerpt

OBJECTIVES: Persistent toe walking (TW) in children is often idiopathic but may conceal subtle neuromuscular or metabolic causes. This cross-sectional, retrospective study investigated clinical and genetic characteristics of children carrying PYGM variants to explore potential subclinical phenotypes among heterozygous carriers. METHODS: Seventy-two (72) children meeting criteria for idiopathic TW were evaluated...

Topics

Join the communities discussing this publication.

Child, Preschool
Adolescent
Child
Cross-Sectional Studies
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

PMID: 41764759
PMCID: PMC12952498

Genes

PYGM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical Features in Children with Persistent Toe Walking Who Carry Heterozygous PYGM Variants: A Cross-Sectional Study.PMID 41764759Read ↗

Exploring EPHB4 in Gait Disorders: VUS Detection and Phenotypic Characterization in a Toe-Walking CohortSemantic proximity Read ↗

Estimating the Prevalence of GNE Myopathy Using Population Genetic DatabasesSemantic proximity Read ↗

Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.Semantic proximity Read ↗

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.Semantic proximity Read ↗

The phenotypic and genotypic features of a Scottish cohort with McArdle disease.Semantic proximity Read ↗

Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation.Semantic proximity Read ↗

Rippling muscle disease: evidence for phenotypic and genetic heterogeneity.Semantic proximity Read ↗

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disordersSemantic proximity Read ↗

Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis.Semantic proximity Read ↗

Contemporary approach to joint hypermobility and related disorders.Semantic proximity Read ↗

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.Semantic proximity Read ↗

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.Semantic proximity Read ↗

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