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

Cystinosis distal myopathy, novel clinical, pathological and genetic features.

Neuromuscular disorders : NMD - 1 Sept 2017

Cabrera-Serrano Macarena, Junckerstorff Reimar C, Alisheri Ali, Pestronk Alan, Laing Nigel G, Weihl Conrad C, Lamont Phillipa J

Abstract excerpt

Nephropathic cystinosis is an autosomal recessive lysosomal disease in which cystine cannot exit the lysosome to complete its degradation in the cytoplasm, thus accumulating in tissues. Some patients develop a distal myopathy involving mainly hand muscles. Myopathology descriptions from only 5 patients are available in the literature. We present a comprehensive clinical, pathological and genetic description of 3...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Transport Systems, Neutral
Share to Cardiac Myosins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cystine

Share to Cystinosis

Share to Distal Myopathies

Share to Microscopy, Electron

Share to Myosin Heavy Chains

Share to Myosins

Source

Identifiers

PMID: 28629674
DOI: 10.1016/j.nmd.2017.05.010

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

Cystinosis distal myopathy, novel clinical, pathological and genetic features.PMID 28629674Read ↗

Nephropathic cystinosis: an update on genetic conditioning.Semantic proximity Read ↗

Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.Semantic proximity Read ↗

Nephropathic cystinosis: late complications of a multisystemic disease.Semantic proximity Read ↗

Cystinosis.Semantic proximity Read ↗

Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for RepairSemantic proximity Read ↗

Phenotypic variability in cystinosis: Lessons from an atypical case.Semantic proximity Read ↗

An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.Semantic proximity Read ↗

A new mutation in two siblings with cystinosis presenting with Bartter syndrome.Semantic proximity Read ↗

The molecular basis of Dutch infantile nephropathic cystinosis.Semantic proximity Read ↗

Molecular Mechanisms and Treatment Options of Nephropathic Cystinosis.Semantic proximity Read ↗

Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.Semantic proximity Read ↗

Clinical, biochemical, and molecular spectrum of nephropathic cystinosis: Two novel CTNS mutations.Semantic proximity Read ↗

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