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

<i>Fukutin</i> gene mutations in steroid‐responsive limb girdle muscular dystrophy

16 Oct 2006

Abstract excerpt

OBJECTIVE: Defects in glycosylation of alpha-dystroglycan are associated with several forms of muscular dystrophy, often characterized by congenital onset and severe structural brain involvement, collectively known as dystroglycanopathies. Six causative genes have been identified in these disorders including fukutin. Mutations in fukutin cause Fukuyama congenital muscular dystrophy. This is the second most common...

Read the complete abstract on PubMed

Topics

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

Share to Adipose Tissue and Metabolism
Share to Genetic Neurodegenerative Diseases
Share to Muscle Physiology and Disorders

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

Source

Identifiers

PMID: 17044012
DOI: 10.1002/ana.21006

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

<i>Fukutin</i> gene mutations in steroid‐responsive limb girdle muscular dystrophyPMID 17044012Read ↗

A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy.Semantic proximity Read ↗

FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.Semantic proximity Read ↗

Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycanSemantic proximity Read ↗

Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.Semantic proximity Read ↗

[Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies].Semantic proximity Read ↗

Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.Semantic proximity Read ↗

A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.Semantic proximity Read ↗

Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy.Semantic proximity Read ↗

Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients.Semantic proximity Read ↗

<i>FKRP</i> gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cystsSemantic proximity Read ↗

FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.Semantic proximity Read ↗

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.Semantic proximity Read ↗

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