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

Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy.

Journal of the neurological sciences - 1 Jul 1993

Sobue G, Doyu M, Kachi T, Yasuda T, Mukai E, Kumagai T, Mitsuma T

Abstract excerpt

Four of 8 definite heterozygous female carriers determined by PCR amplification of tandem CAG repeat of the AR gene, from 4 families of X-linked recessive bulbospinal neuronopathy (X-BSNP) showed extensive high amplitude motor unit potentials in examined muscles although all subjects were neurologically normal. Plasma creatine kinase, myoglobin, myosin light chain, lactate and pyruvate were all normal even in the...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Heterozygote
Share to Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscles

Share to Pedigree

Share to Phenotype

Share to Repetitive Sequences, Nucleic Acid

Share to X Chromosome

Source

Identifiers

PMID: 8410070
DOI: 10.1016/0022-510x(93)90157-t

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.

Research trail→

Click a neighbor to travelStep 1 · 10 closest

Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy.PMID 8410070Read ↗

Random X chromosome methylation patterns in the carriers with clinical phenotypic expressions of X-linked recessive bulbospinal neuronopathy.Semantic proximity Read ↗

Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families.Semantic proximity Read ↗

X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers.Semantic proximity Read ↗

Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females.Semantic proximity Read ↗

X-linked recessive bulbospinal neuronopathy: clinical phenotypes and CAG repeat size in androgen receptor gene.Semantic proximity Read ↗

[X chromosomal bulbospinal neuropathy (X-BSN, Kennedy syndrome): an illness with repetitive triplet sequences. Case report, differential diagnosis and molecular genetics aspects].Semantic proximity Read ↗

Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophySemantic proximity Read ↗

[DNA diagnosis of X-linked recessive bulbospinal muscular atrophy by androgen receptor gene mutations].Semantic proximity Read ↗

Highly skewed inactivation of the wild-type X-chromosome in asymptomatic female carriers of spinal and bulbar muscular atrophy (Kennedy's disease).Semantic proximity Read ↗

[Tissue variability of androgen receptor gene in bulbospinal muscular atrophy--comparison of the number of CAG repeats between muscles and peripheral blood leukocytes].Semantic proximity Read ↗

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