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

Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies.

Scientific reports - 20 Aug 2024

Hnilicova Petra, Grendar Marian, Turcanova Koprusakova Monika, Trancikova Kralova Alzbeta, Harsanyiova Jana, Krssak Martin, Just Ivica, Misovicova Nadezda, Hikkelova Martina, Grossmann Jan, Spalek Peter, Meciarova Iveta, Kurca Egon, Zilka Norbert, Zelenak Kamil, Bogner Wolfgang, Kolisek Martin

Abstract excerpt

Miyoshi myopathy/dysferlinopathy (MMD) is a rare muscle disease caused by DYSF gene mutations. Apart from skeletal muscles, DYSF is also expressed in the brain. However, the impact of MMD-causing DYSF variants on brain structure and function remains unexplored. To investigate this, we utilized magnetic resonance (MR) modalities (MR volumetry and 31P MR spectroscopy) in a family with seven children, four of whom...

Read the complete abstract on PubMed

Topics

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

Share to Distal Myopathies
Share to Dysferlin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Energy Metabolism

Share to Magnesium

Share to Magnetic Resonance Imaging

Share to Magnetic Resonance Spectroscopy

Share to Muscular Atrophy

Share to Muscular Dystrophies, Limb-Girdle

Source

Open in PubMed Open full text

Identifiers

PMID: 39164335
DOI: 10.1038/s41598-024-69966-4
PMCID: PMC11336102

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies.PMID 39164335Read ↗

Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study.Semantic proximity Read ↗

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

Metabolic changes in DYT11 myoclonus-dystonia.Semantic proximity Read ↗

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

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

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction.Semantic proximity Read ↗

Metabolic dysregulation contributes to the development of dysferlinopathy.Semantic proximity Read ↗

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

Long-term MRI and clinical follow-up of symptomatic and presymptomatic carriers of dysferlin gene mutations.Semantic proximity Read ↗

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.Semantic proximity Read ↗

Voxel-based analysis in neuroferritinopathy expands the phenotype and determines radiological correlates of disease severity.Semantic proximity Read ↗

Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy.Semantic proximity Read ↗

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