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

Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma.

Acta neuropathologica - 1 Dec 2002

Saito Akiko, Higuchi Itsuro, Nakagawa Masanori, Saito Mineki, Hirata Keiko, Suehara Masahito, Yoshida Yoshihiro, Takahashi Toshiaki, Aoki Masashi, Osame Mitsuhiro

Abstract excerpt

We analyzed five clinically defined cases of Miyoshi myopathy both genetically and immunologically. Western blot of muscle specimens confirmed that all of these patients had dysferlin deficiency. Immunohistochemistry revealed that two of the five patients showed positive dysferlin immunostaining. Subsequent mutation analysis of the dysferlin gene in these two patients revealed that both had novel 5' splicing...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Dysferlin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Muscle Proteins

Share to Muscular Diseases

Share to RNA Splice Sites

Share to Sarcolemma

Share to Severity of Illness Index

Source

Identifiers

PMID: 12410383
DOI: 10.1007/s00401-002-0593-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma.PMID 12410383Read ↗

Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation.Semantic proximity Read ↗

Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy.Semantic proximity Read ↗

Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report.Semantic proximity Read ↗

The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants.Semantic proximity Read ↗

Heterogeneous characteristics of Korean patients with dysferlinopathy.Semantic proximity Read ↗

A novel biallelic mutation in the DYSF gene as a cause of Miyoshi myopathy.Semantic proximity Read ↗

The Clinical Outcome Study for dysferlinopathySemantic proximity Read ↗

Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy.Semantic proximity Read ↗

Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.Semantic proximity Read ↗

Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.Semantic proximity Read ↗

Abnormal Expression of Dysferlin in Blood Monocytes Supports Primary Dysferlinopathy in Patients Confirmed by Genetic AnalysesSemantic proximity Read ↗

Dysferlinopathies: Clinical and genetic variability.Semantic proximity Read ↗

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