NDUFS8-related complex i deficiency extends phenotype from “PEO plus” to leigh syndrome

JIMD Reports

Volumn 10, Issue , 2013, Pages 17-22

  Marina, Adela Della ^a   Schara, Ulrike ^a   Pyle, Angela ^b   Möller Hartmann, Claudia ^a   Holinski Feder, Elke ^c   Abicht, Angela ^c   Czermin, Birgit ^c   Lochmüller, Hanns ^b   Griffin, Helen ^b   Santibanez Koref, Mauro ^b   Chinnery, Patrick F ^b   Horvath, Rita ^b  

^a UNIVERSITY OF DUISBURG ESSEN   (Germany)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c Medical Genetic Center   (Germany)

Author keywords

Deep tendon reflex; Exome sequencing; Intelligence quotient; Leigh syndrome; Progressive external ophthalmoplegia

Indexed keywords

EID: 84896728811     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2012_195     Document Type: Chapter

References (12)

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