EDMD4 is characterised by muscle weakness and atrophy. Elevated creatine kinase level, limb contractures and cardiomyopathy have also been noted among EDMD4 patients. EDMD4 is associated with mutations in SYNE1 gene.
Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal dominant
6q25.2
EDMD4 is characterised by muscle weakness and atrophy. Elevated creatine kinase level, limb contractures and cardiomyopathy have also been noted among EDMD4 patients. EDMD4 is associated with mutations in SYNE1 gene.
| Subject ID | Country | Sex | HPO Terms | Variant | Zygosity | Reference |
|---|---|---|---|---|---|---|
| 612998.1 | Saudi Arabia | Unknown | Hypotonia; Muscular dystrophy; Limb-gird... Hypotonia; Muscular dystrophy; Limb-girdle muscular dystrophy  | NM_182961.4:c.7532A>T | Homozygous | Monies et al. 2017 |