Exome sequencing reveals a homozygous frameshift variant in CAPN3 in a Tunisian patient with a neuromuscular disorder

• Auteur principal: Exome sequencing reveals a homozygous frameshift variant in CAPN3 in a Tunisian patient with a neuromuscular disorder (Auteur)
• Format: Livre
• Publié: Annals of Molecular and Genetic Medicine - Peertechz Publications, 2022-09-27.
• Sujets: Research Article
• Accès en ligne: Connect to this object online.

<p>Muscular dystrophy (MD) is a heterogeneous group of diseases that cause progressive weakness and loss of muscle mass. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy. We report here a case of a Tunisian patient...