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

Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.

Neurology - 21 Apr 2015

Munteanu Iulia, Ramachandran Nivetha, Ruggieri Alessandra, Awaya Tomonari, Nishino Ichizo, Minassian Berge A

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Genetic Diseases, X-Linked
Share to Lysosomal Storage Diseases
Share to Muscular Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Siblings

Share to Vacuolar Proton-Translocating ATPases

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 25817839
DOI: 10.1212/WNL.0000000000001499
PMCID: PMC4409585

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.PMID 25817839Read ↗

A new congenital form of X-linked autophagic vacuolar myopathy.Semantic proximity Read ↗

Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant.Semantic proximity Read ↗

An update on autophagy disordersSemantic proximity Read ↗

Central core myopathy with autophagy.Semantic proximity Read ↗

X-linked myopathy with excessive autophagy due to a mutation in VMA21 gene: the first case in China.Semantic proximity Read ↗

Role of autophagy in inherited metabolic and endocrine myopathiesSemantic proximity Read ↗

Electrophysiology extends the phenotypic spectrum of X-linked myopathy with excessive autophagy.Semantic proximity Read ↗

Recent advances in the clinical spectrum and pathomechanisms associated with X-linked myopathy with excessive autophagy and other VMA21-related disorders.Semantic proximity Read ↗

Late adult-onset of X-linked myopathy with excessive autophagy.Semantic proximity Read ↗

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).Semantic proximity Read ↗

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusSemantic proximity Read ↗

Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation.Semantic proximity Read ↗

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