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

Rather mild phenotype in a patient with homozygous null mutations in the alpha-sarcoglycan gene.

Swiss medical weekly - 4 Feb 2006

Ramelli Gian Paolo, Joncourt Franziska, Gasperini Marcella, Tonin Paola, Burgunder Jean Marc

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 Disease Progression
Share to Dystroglycans
Share to Muscular Dystrophies
Share to Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Sarcoglycans

Share to Switzerland

Source

Identifiers

PMID: 16633953
DOI: 10.4414/smw.2006.11207

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rather mild phenotype in a patient with homozygous null mutations in the alpha-sarcoglycan gene.PMID 16633953Read ↗

Novel sarcoglycan gene mutations in a large cohort of Italian patients.Semantic proximity Read ↗

From adhalinopathies to alpha-sarcoglycanopathies: an overview.Semantic proximity Read ↗

Invited commentary. Sarcoglycanopathies: a clinico-pathological study.Semantic proximity Read ↗

Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression.Semantic proximity Read ↗

Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathySemantic proximity Read ↗

The clinical spectrum of sarcoglycanopathies.Semantic proximity Read ↗

gamma-Sarcoglycanopathy in two Palestinian-American siblings.Semantic proximity Read ↗

Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation.Semantic proximity Read ↗

C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy.Semantic proximity Read ↗

New missense mutation in the alpha-sarcoglycan gene in a Japanese patient with severe childhood autosomal recessive muscular dystrophy with incomplete alpha-sarcoglycan deficiency.Semantic proximity Read ↗

Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care.Semantic proximity Read ↗

[alpha-Adducin gene].Semantic proximity Read ↗

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