Genopathy
Gene-Disorder Association · Article
Gene
PLEC
Plectin
Disorder
Muscular Dystrophy
First reported 1996
Supporting publications 14
Key publication · gene–disorder Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy.Human molecular genetics · 1996
Key publication · disorder Myocardial lesions in progressive muscular dystrophy.A.M.A. archives of pathology · 1950
Manually curated
Association Review

In brief

The association between PLEC (Plectin) and Muscular Dystrophy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 5
Compounds 0
Trials 0
Publications 14
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
PLEC

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Muscular Dystrophy

The disorder

9 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Literature

Reading

14 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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06
Provenance

References & sources

11 references

Every source and publication cited across this dossier, as one numbered reference list.

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