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

A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy.

Neuromuscular disorders : NMD - 1 Mar 2001

Ueyama H, Kumamoto T, Nagao S, Masuda T, Horinouchi H, Fujimoto S, Tsuda T

Abstract excerpt

We found a new dysferlin gene mutation in two Japanese families, one with limb-girdle muscular dystrophy 2B and the other with Miyoshi myopathy. All patients in the limb-girdle muscular dystrophy 2B family showed apparent proximal dominant muscle atrophy and weakness, whereas a patient with Miyoshi myopathy in the second family showed distal muscle involvement at an early stage. The common clinical feature of all...

Read the complete abstract on PubMed

Topics

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

Share to DNA, Complementary
Share to Dysferlin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Muscle Proteins

Share to Muscle, Skeletal

Share to Muscular Dystrophies

Share to Tomography, X-Ray Computed

Source

Identifiers

PMID: 11257469
DOI: 10.1016/s0960-8966(00)00168-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy.PMID 11257469Read ↗

DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.Semantic proximity Read ↗

Limb-girdle muscular dystrophy type 2B: An unusual cause of proximal muscular weakness in Saudi Arabia.Semantic proximity Read ↗

Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.Semantic 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 ↗

Dysferlinopathy in Iran: Clinical and genetic report.Semantic proximity Read ↗

[Dysferlin deficiency: the cause of limb-girdle muscular dystrophy 2B and Miyoshi myopathy in a Chinese pedigree].Semantic proximity Read ↗

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

Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy.Semantic proximity Read ↗

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.Semantic proximity Read ↗

A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.Semantic proximity Read ↗

Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy.Semantic proximity Read ↗

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients.Semantic proximity Read ↗

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