Neuromuscular disease caused by qualitative or quantitative defects of plectin

MONDO:0016198

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

Also known as: PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder, qualitative or quantitative defects of plectin

1 clinical trial for this condition and its sub-types, 0 tagged with Neuromuscular disease caused by qualitative or quantitative defects of plectin itself.

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↑ Hereditary neurological disease (5791) ↑ Qualitative or quantitative protein defects in neuromuscular diseases (30)

Sub-types of Neuromuscular disease caused by qualitative or quantitative defects of plectin

Including sub-types (1) Tagged with Neuromuscular disease caused by qualitative or quantitative defects of plectin (0)

Trials to join now! 1

Major study aims to better measure muscular dystrophy progression

Knowledge-focused Recruiting now

This 24-month observational study will follow up to 1000 people with certain types of muscular dystrophy (LGMD, DM2, and late-onset Pompe disease) aged 6-50. Researchers want to see if specific physical tests, like the North Star Assessment and a 100-meter walk, are good ways to …

Sponsor: Virginia Commonwealth University • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:57 UTC

Neuromuscular disease caused by qualitative or quantitative defects of plectin

Where it sits in the disease tree

Major study aims to better measure muscular dystrophy progression