Scapuloperoneal muscular dystrophy
Evidence-based neurology checklist on scapuloperoneal muscular dystrophy: Genetics This is caused by mutations in the desmin gene The transmission is autosomal dominant The onset is in adulthood Clinical features Other phenotypes Associated features Differential diagnosis Muscle biopsy
Genetics
- This is caused by mutations in the desmin gene
- The transmission is autosomal dominant
- The onset is in adulthood
Clinical features
Other phenotypes
Associated features
Differential diagnosis
Muscle biopsy
References
- Walter MC, Reilich P, Huebner A, et al. Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Brain 2007; 130:1485-1496.
- Oates EC, Reddel S, Rodriguez ML, et al. Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. Brain 2012; 135:1714-1723.
- Amato AA, Russell JA. Neuromuscular Disorders. McGraw Hill New York 2008 p555.
