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Emery-Dreifuss muscular dystrophy

Autosomal RecessiveAutosomal DominantSystemic/Multisystem
W
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Overview

From WUSTL Neuromuscular

EMD1: Emerin; Xq28; Recessive EMD2: Lamin A/C; 1q21.2; Dominant EMD3: Lamin A/C; 1q21.2; Recessive EMD4: SYNE1; 6q25; Dominant EMD5: SYNE2; 14q23; Dominant EMD6: FHL1; Xq26; Recessive or Semi-Dominant EMD7; TMEM43; 3p25; Dominant EMD: Titin; 2q31; Recessive EMD modifiers: SUN1; SUN2 Other: Sporadic & Dominant from A Kornberg MD

External Resources

WUSTL Neuromuscular
Washington University Disease Center
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.