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Reference

Evidence

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Outcomes
Proteins
Interactions
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Chemistry

Reactions
Reach

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Pathways
Processes
Anatomy
Cell types
Organisms
Materials
Assessments
Diseases

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A reference for what the literature reports. Not medical advice.

Disease

neuromuscular disease caused by qualitative or quantitative defects of plectin

MONDO:0016198Mondo

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Findings

No curated finding names neuromuscular disease caused by qualitative or quantitative defects of plectin yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

A neuromuscular disease caused by the qualitative or quantitative defects of plectin. It is characterized by muscular dystrophy.

Definition from the Mondo Disease Ontology (MONDO:0016198), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: hereditary neurological disease
qualitative or quantitative protein defects in neuromuscular diseases
Narrower terms (2): autosomal recessive limb-girdle muscular dystrophy type 2Q
epidermolysis bullosa simplex 5B, with muscular dystrophy

Other names

1 name

Resolves to: neuromuscular disease caused by qualitative or quantitative defects of plectin

Also called: qualitative or quantitative defects of plectin