Investigation of the congenital myopathies has been limited by a lack of knowledge regarding basic mechanisms involved in normal myogenesis of human muscle and the relative rarity of these diseases. A newly recognized family of regulatory genes has been shown to be necessary for myogenesis to proceed to formation of normal mature muscle. It is likely that investigation of patients with one or more types of structural myopathy may show that abnormalities of the regulatory basic helix-loop-helix (bHLH) genes may be responsible for disease. (J Child Neurol 1992;7:180-187).
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology