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

Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?

The American journal of case reports - 5 Jan 2017

Scalco Renata Siciliani, Lorenzoni Paulo José, Lynch David S, Martins William Alves, Jungbluth Heinz, Quinlivan Ros, Becker Jefferson, Houlden Henry

Abstract excerpt

BACKGROUND Miyoshi myopathy (MM) is an autosomal-recessive muscle disorder caused by mutations in the DYSF gene. Clinical features and histopathological changes in dysferlinopathies may mimic inflammatory myopathies and a high degree of clinical suspicion is required to guide the genetic investigation. CASE REPORT We report the case of a 16-year-old male who presented with severe bilateral calf pain and elevated...

Read the complete abstract on PubMed

Topics

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

Share to Diagnosis, Differential
Share to Disease Progression

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Distal Myopathies

Share to Dysferlin

Share to Muscle Proteins

Share to Muscle, Skeletal

Share to Muscular Atrophy

Share to Myalgia

Source

Open in PubMed Open full text

Identifiers

PMID: 28053302
DOI: 10.12659/ajcr.900970
PMCID: PMC5228759

Genes

DYSF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?PMID 28053302Read ↗

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

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

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

A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathySemantic proximity Read ↗

Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review.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 ↗

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

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

Genetic Myopathies Initially Diagnosed and Treated as Inflammatory Myopathy.Semantic proximity Read ↗

Dysferlinopathies.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 ↗

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

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