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

• Tác giả chính: Exome sequencing reveals a homozygous frameshift variant in CAPN3 in a Tunisian patient with a neuromuscular disorder (Tác giả)
• Định dạng: Sách
• Được phát hành: Annals of Molecular and Genetic Medicine - Peertechz Publications, 2022-09-27.
• Những chủ đề: Research Article
• Truy cập trực tuyến: 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...