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

Broader clinical spectrum of Fukuyama-type congenital muscular dystrophy manifested by haplotype analysis.

Journal of child neurology - 1 Nov 1999

Yoshioka M, Toda T, Kuroki S, Hamano K

Abstract excerpt

Fukuyama-type congenital muscular dystrophy, Walker-Warburg syndrome, and muscle-eye-brain disease are clinically similar autosomal-recessive diseases, characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. The classification of these disorders remains controversial. We analyzed five patients with congenital muscular dystrophy from four families who had severe eye and brain...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Brain
Share to DNA Mutational Analysis

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

Share to Eye Abnormalities

Share to Haplotypes

Share to Heterozygote

Share to Muscular Dystrophies

Share to Syndrome

Source

Identifiers

PMID: 10593547
DOI: 10.1177/088307389901401105

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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

Broader clinical spectrum of Fukuyama-type congenital muscular dystrophy manifested by haplotype analysis.PMID 10593547Read ↗

Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.Semantic proximity Read ↗

Analysis of genotype and phenotype in fukuyama congenital muscular dystrophy.Semantic proximity Read ↗

Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome.Semantic proximity Read ↗

Ophthalmologic Manifestations Associated with Fukutin (FKTN) mutation subtypes in Korean Patients with Fukuyama Congenital Muscular Dystrophy: A Single-Center Retrospective Case SeriesSemantic proximity Read ↗

Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy.Semantic proximity Read ↗

The mildest known case of Fukuyama-type congenital muscular dystrophy.Semantic proximity Read ↗

National registry of patients with Fukuyama congenital muscular dystrophy in Japan.Semantic proximity Read ↗

[Fukuyama-type congenital muscular dystrophy].Semantic proximity Read ↗

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.Semantic proximity Read ↗

Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).Semantic proximity Read ↗

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.Semantic proximity Read ↗

Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients.Semantic proximity Read ↗

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