Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.

摘要: We present comparisons of the clinical pictures in a series 60 patients with nemaline myopathy whom mutations had been identified genes for nebulin or skeletal muscle alpha-actin. In mutations, typical form predominated, while severe, mild intermediate forms were less frequent. Autosomal recessive inheritance verified appeared likely all cases. actin severe was most common, but some form, and few showed other associated features such as intranuclear rods accumulation. Most cases sporadic, addition there instances both autosomal dominant inheritance, two families mosaicism mutations. Although no specific phenotype found to be either gene, histological together pedigree data may used guiding mutation detection. Finding causative mutation(s) determines mode permits prenatal diagnosis if requested, will not permit prognostication.