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

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case-Series and Literature Review.

Movement disorders clinical practice - 1 Sept 2026

Yoganathan Sangeetha, Tochen Laura, Ganguly Jacky, Chowdhury Sayoni Roy, AlFaris Haya S, Pai Vivek, LeBlanc-Millar Andrea, Breitbart Sara, Kumar Hrishikesh, Shroff Manohar, Reginald Arun, Yoon Grace, Fasano Alfonso, Ibrahim George M, Gorodetsky Carolina

Abstract excerpt

BACKGROUND: Variants in AFG3-Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene. CASES: A 3-year-old girl presented with global developmental delay, vision disturbances and frequent falls. She developed...

Read the complete abstract on PubMed

Topics

Humans
Female
Child
Phenotype
Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

ATPases Associated with Diverse Cellular Activities

Heterozygote

Spinocerebellar Degenerations

Developmental Disabilities

Spinocerebellar Ataxias

ATP-Dependent Proteases

Source

Open in PubMed Open full text

Identifiers

PMID: 42120302
DOI: 10.1002/mdc3.70643
PMCID: PMC13339275

Genes

AFG3L2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case-Series and Literature Review.PMID 42120302Read ↗

AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.Semantic proximity Read ↗

Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia.Semantic proximity Read ↗

Expanding the Spectrum of AFG3L2 Mutations: A Case with Late-Onset Autosomal Recessive Spinocerebellar Ataxia from Iran.Semantic proximity Read ↗

Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.Semantic proximity Read ↗

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.Semantic proximity Read ↗

A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.Semantic proximity Read ↗

A novel presentation of an ATP1A3 gene mutation - case report and literature review.Semantic proximity Read ↗

PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.Semantic proximity Read ↗

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.Semantic proximity Read ↗

Angelman Syndrome Due to UBE3A Gene Mutation.Semantic proximity Read ↗

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant.Semantic proximity Read ↗

The emerging neurological spectrum of AARS2-associated disorders.Semantic proximity Read ↗

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