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

• প্রধান লেখক: Exome sequencing reveals a homozygous frameshift variant in CAPN3 in a Tunisian patient with a neuromuscular disorder (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Annals of Molecular and Genetic Medicine - Peertechz Publications, 2022-09-27.
• বিষয়গুলি: Research Article
• অনলাইন ব্যবহার করুন: 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...