Mitochondrial infantile liver disease due to trmu gene mutations: three new cases

JIMD Reports

Volumn 11, Issue , 2013, Pages 117-123

  Gaignard, Pauline ^a,b   Gonzales, Emmanuel ^a,b   Ackermann, Oanez ^a,b   Labrune, Philippe ^c   Correia, Isabelle ^a,b   Therond, Patrice ^a,b   Jacquemin, Emmanuel ^a,b   Slama, Abdelhamid ^a,b  

^a BICÊTRE HOSPITAL   (France)

^b Centre de Référence Neuromusculaire   (France)

^c HÔPITAL ANTOINE BÉCLÈRE   (France)

Author keywords

Microvesicular steatosis; Mitochondrial tRNA; Recurrent hypoglycemia; Respiratory chain complex; Splice mutation

Indexed keywords

EID: 84892736006     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2013_230     Document Type: Chapter

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