Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

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Title
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect
Authors
Keywords
Congenital myasthenia, Mitochondrial respiratory chain, Mutation, DOK7, COLQ, Duchenne muscular dystrophy, Whole exome sequencing
Journal
NEUROMUSCULAR DISORDERS
Volume 25, Issue 3, Pages 257-261
Publisher
Elsevier BV
Online
2014-12-11
DOI
10.1016/j.nmd.2014.11.017

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