EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects.Homozygous mutation in the LMNA gene causes EDMD2. [From OMIM]
Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal dominant
1q22
EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects.Homozygous mutation in the LMNA gene causes EDMD2. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 181350.1 | Lebanon | Female | No | Muscular dystrophy; Ventricular tachyca... Muscular dystrophy; Ventricular tachycardia  | NM_170707.4:c.1357C>T | Heterozygous | Autosomal, Dominant | Refaat et al. 2019 |