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

AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance.

Journal of neurology - 1 Mar 2008

Hanisch Frank, Joshi Pushpa, Zierz Stephan

Abstract excerpt

BACKGROUND: The homozygous c.34C>T mutation in the AMPD1 gene encoding the muscle-specific isoform of AMP deaminase (AMPD) accounts for the vast majority of inherited skeletal muscle AMPD deficiencies. It is controversial (i) whether AMPD deficiency is associated with exercise-induced complaints and (ii) whether an acquired form exists in which an underlying neuromuscular disorder additionally lowers the AMPD...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to AMP Deaminase
Share to Biopsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Electrophysiology

Share to Gene Frequency

Share to Muscle, Skeletal

Share to Neuromuscular Diseases

Source

Identifiers

PMID: 18338202
DOI: 10.1007/s00415-008-0530-6

Genes

MAF
AMPD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance.PMID 18338202Read ↗

Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiencySemantic proximity Read ↗

Ecto- and cytosolic 5'-nucleotidases in normal and AMP deaminase-deficient human skeletal muscle.Semantic proximity Read ↗

Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene.Semantic proximity Read ↗

Genetic and other determinants of AMP deaminase activity in healthy adult skeletal muscle.Semantic proximity Read ↗

Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene.Semantic proximity Read ↗

Does the C34T mutation in AMPD1 alter exercise capacity in the elderly?Semantic proximity Read ↗

Myoadenylate deaminase deficiency: a frequent cause of muscle pain A case detected by exercise testing.Semantic proximity Read ↗

AMP deaminase deficiency is associated with lower sprint cycling performance in healthy subjects.Semantic proximity Read ↗

Molecular biology of AMP deaminase deficiency.Semantic proximity Read ↗

A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.Semantic proximity Read ↗

Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: does this mutation impair performance?Semantic proximity Read ↗

Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.Semantic proximity Read ↗

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