Emery-Dreifuss muscular dystrophy 2, autosomal dominant
MONDO:0021569Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.
Also known as: EDMD2, Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Hauptmann-Thannhauser muscular dystrophy, LGMD1B, LMNA autosomal dominant limb-girdle muscular dystrophy, autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA, limb-girdle muscular dystrophy due to lamin A/C deficiency, muscular dystrophy, limb-girdle type 1B
18 clinical trials for this condition and its sub-types, 3 tagged with Emery-Dreifuss muscular dystrophy 2, autosomal dominant itself.
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Global registry aims to map the full course of Charcot-Marie-Tooth disease
Knowledge-focused Recruiting nowResearchers are building a global registry to collect patient-reported surveys, genetic test results, and medical records from people with Charcot-Marie-Tooth disease and related inherited neuropathies. The study is open to children and adults with a confirmed or suspected diagno…
Sponsor: Hereditary Neuropathy Foundation • Aim: Knowledge-focused
Last updated Sep 19, 2026 00:00 UTC
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Scientists hunt for 'Modifier Genes' that could explain why some LMNA patients fare better than others
Knowledge-focused Recruiting nowThis study aims to identify genetic factors that affect how severe muscle and heart problems become in people with LMNA gene mutations. Researchers will collect skin and muscle samples from 40 participants and use advanced DNA and RNA analysis to look for protective or aggravatin…
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:10 UTC
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Major study aims to better measure muscular dystrophy progression
Knowledge-focused Recruiting nowThis 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