Expanding the clinical and magnetic resonance spectrum of leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) in a patient harboring a novel EARS2 mutation

JIMD Reports

Volumn 23, Issue , 2015, Pages 85-89

  Biancheri, Roberta ^a   Lamantea, Eleonora ^b   Severino, Mariasavina ^a   Diodato, Daria ^b   Pedemonte, Marina ^a   Cassandrini, Denise ^c   Ploederl, Alexandra ^a   Trucco, Federica ^a   Fiorillo, Chiara ^c   Minetti, Carlo ^a   Santorelli, Filippo M ^c   Zeviani, Massimo ^b   Bruno, Claudio ^a  

^a G GASLINI INSTITUTE   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

Brisk tendon reflex; Cerebellar white matter; Left caudate; Muscle hypotonia; Process speed index

Indexed keywords

EID: 84955713349     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2015_434     Document Type: Chapter

References (10)

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