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

New aspects on patients affected by dysferlin deficient muscular dystrophy.

Journal of neurology, neurosurgery, and psychiatry - 1 Sept 2010

Klinge Lars, Aboumousa Ahmed, Eagle Michelle, Hudson Judith, Sarkozy Anna, Vita Gianluca, Charlton Richard, Roberts Mark, Straub Volker, Barresi Rita, Lochmüller Hanns, Bushby Kate

Abstract excerpt

Mutations in the dysferlin gene lead to limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. A cohort of 36 patients affected by dysferlinopathy is described, in the first UK study of clinical, genetic, pathological and biochemical data. The diagnosis was...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Creatine Kinase
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, Limb-Girdle

Share to Physical Fitness

Source

Open in PubMed Open full text

Identifiers

PMID: 19528035
DOI: 10.1136/jnnp.2009.178038
PMCID: PMC2975994

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19528035-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New aspects on patients affected by dysferlin deficient muscular dystrophy.PMID 19528035Read ↗

Late onset in dysferlinopathy widens the clinical spectrum.Semantic proximity Read ↗

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.Semantic proximity Read ↗

Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy.Semantic proximity Read ↗

Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.Semantic proximity Read ↗

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.Semantic proximity Read ↗

Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.Semantic proximity Read ↗

Dysferlinopathies: Clinical and genetic variability.Semantic proximity Read ↗

Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report.Semantic proximity Read ↗

Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile.Semantic proximity Read ↗

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases.Semantic proximity Read ↗

[Miyoshi distal muscular dystrophy (Miyoshi myopathy)].Semantic proximity Read ↗

Distal myopathies.Semantic proximity Read ↗

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