Publications:

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

Brain : A Journal Of Neurology

Rodríguez Cruz, Pedro M PM; Cossins, Judith J; Estephan, Eduardo de Paula EP; Munell, Francina F; Selby, Kathryn K; Hirano, Michio M; Maroofin, Reza R; Mehrjardi, Mohammad Yahya Vahidi MYV; Chow, Gabriel G; Carr, Aisling A; Manzur, Adnan A; Robb, Stephanie S; Munot, Pinki P; Wei Liu, Wei W; Banka, Siddharth S; Fraser, Harry H; De Goede, Christian C; Zanoteli, Edmar E; Conti Reed, Umbertina U; Sage, Abigail A; Gratacos, Margarida M; Macaya, Alfons A; Dusl, Marina M; Senderek, Jan J; Töpf, Ana A; Hofer, Monika M; Knight, Ravi R; Ramdas, Sithara S; Jayawant, Sandeep S; Lochmüller, Hans H; Palace, Jacqueline J; Beeson, David D

Publication Date: 2019-06-01

Variant appearance in text: RYR1: 784G>T; E262X

PubMed Link: 31081514

Variant Present in the following documents:

• Main text

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