Identification of mutations in the<i>MYO9A</i>gene in patients with congenital myasthenic syndrome

Congenital myasthenic syndromes are a group of rare and genetically heterogenous disorders resulting from defects in the structure and function of the neuromuscular junction. Patients with congenital myasthenic syndrome exhibit fatigable muscle weakness with a variety of accompanying phenotypes depe...

Бүрэн тодорхойлолт

-д хадгалсан:
Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Emily O’Connor, Ana Töpf, Juliane S. Müller, Dan Cox, Teresinha Evangelista, J. Colomer, Angela Abicht, Jan Senderek, Oswald Hasselmann, Ahmet Yaramış, Steven H. Laval, Hanns Lochmüller
Формат: Artigo
Хэл сонгох:англи
Хэвлэсэн: 2016
Онлайн хандалт:https://doi.org/10.1093/brain/aww130
Шошгууд: Шошго нэмэх
Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!