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A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?
Author(s) -
Fionda Laura,
TuronSans Janina,
Fuentes Prior Pablo,
Bernal Noguera Sara,
CortésVicente Elena,
LópezPérez Maria Angeles,
Gallardo Eduard,
RojasGarcía Ricard
Publication year - 2021
Publication title -
journal of the peripheral nervous system
Language(s) - Portuguese
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/jns.12425
Subject(s) - pes cavus , neuroscience , weakness , physical medicine and rehabilitation , medicine , sanger sequencing , electromyography , psychology , genetics , biology , mutation , gene , anatomy , complication