Alpha-actin gene mutations and polymorphisms in Italian patients with nemaline myopathy.

Abstract excerpt

Nemaline myopathy is a rare neuromuscular disorder, showing striking clinical and genetic heterogeneity. Patients can show a spectrum of disease ranging from severe congenital to an adult-onset mild form. Disease-causing mutations have been reported in five genes encoding sarcomeric thin filament proteins, and inheritance can be either autosomal recessive or dominant. No phenotype-genotype correlation is apparent...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Actins
• Share to Base Sequence
• Share to DNA Mutational Analysis