Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy

Journal of Medical Genetics

Volumn 53, Issue 4, 2016, Pages 270-278

  Koch, Johannes ^a   Feichtinger, René G ^a   Freisinger, Peter ^b   Pies, Mechthild ^c   Schrödl, Falk ^a   Iuso, Arcangela ^d,e   Sperl, Wolfgang ^a   Mayr, Johannes A ^a   Prokisch, Holger ^d,e   Haack, Tobias B ^d,e  

^a PARACELSUS MEDICAL UNIVERSITY   (Austria)

^b Kreisklinken Reutlingen ^*  (Germany)

^c UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^d INSTITUTE OF EPIDEMIOLOGY   (Germany)

^e TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DYNAMIN RELATED PROTEIN 1; GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1; MITOCHONDRIAL PROTEIN; UNCLASSIFIED DRUG; GDAP PROTEIN; MEMBRANE PROTEIN; MFF PROTEIN, HUMAN; NERVE PROTEIN;

ALLELE; ARTICLE; BASAL GANGLION; BIOCHEMICAL ANALYSIS; BRAIN DISEASE; CASE REPORT; CHILD; CONTROLLED STUDY; CYTOLOGY; DEVELOPMENTAL DISORDER; DYSPHAGIA; ENERGY METABOLISM; EXON; FIBROBLAST; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE; INFANT; LEIGH LIKE ENCEPHALOPATHY; LOSS OF FUNCTION MUTATION; MALE; MFF GENE; MICROCEPHALY; MITOCHONDRIAL DYNAMICS; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; OPTIC NERVE DISEASE; PERIPHERAL NEUROPATHY; PEROXISOME; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY CHAIN; SCHOOL CHILD; SEIZURE; SPASTICITY; SUBTHALAMIC NUCLEUS; WESTERN BLOTTING; DIAGNOSTIC IMAGING; EXOME; EXTRAPYRAMIDAL SYNDROME; GENETICS; HIGH THROUGHPUT SEQUENCING; MITOCHONDRION; PATHOLOGY; PATHOPHYSIOLOGY;

BASAL GANGLIA DISEASES; BRAIN DISEASES; CHILD, PRESCHOOL; EXOME; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; NERVE TISSUE PROTEINS; OPTIC ATROPHY; PERIPHERAL NERVOUS SYSTEM DISEASES; PEROXISOMES;

EID: 84957922351     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103500     Document Type: Article

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