[DEL]EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs: MUSCULAR DYSTROPHY, TARDIVE, DREIFUSS-EMERY TYPE, WITH CONTRACTURES
HUMEROPERONEAL NEUROMUSCULAR DISEASE, FORMERLY
SCAPULOPERONEAL SYNDROME, X-LINKED, FORMERLY
EMD1
EDMD1
Number of Symptoms 0
OrphanetNr:
OMIM Id: 310300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence ...
Clinical Description OMIM Dreifuss and Hogan (1961) and Emery and Dreifuss (1966) studied a Virginia kindred in which there were 8 affected males in 3 generations in a typical X-linked pedigree pattern. Onset of muscle weakness, first affecting the lower extremities ...
Genotype-Phenotype Correlations OMIM Ellis et al. (1999) stated that more than 70 different mutations causing EDMD had been identified in the emerin gene. They described 2 missense mutations involving proline-183 (300384.0008-300384.0009). Biochemical analyses had demonstrated that the mobility and expression levels ...
Molecular genetics OMIM Among the many genes located in the distal part of Xq28, Bione et al. (1994) selected 8 transcripts expressed at high levels in skeletal muscle, heart, and/or brain as the best candidates for the site of the mutation ...