From ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1

Mitochondrion

Volumn 21, Issue , 2015, Pages 12-18

  Kettwig, Matthias ^a   Schubach, Max ^b   Zimmermann, Franz A ^c   Klinge, Lars ^a   Mayr, Johannes A ^c   Biskup, Saskia ^b   Sperl, Wolfgang ^c   Gärtner, Jutta ^a   Huppke, Peter ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b CEGAT GMBH   (Germany)

^c PARACELSUS MEDICAL UNIVERSITY   (Austria)

Author keywords

AIFM1; External ophthalmoplegia; Leukodystrophy; Muscle wasting; X chromosomal mitochondriopathy

Indexed keywords

APOPTOSIS INDUCING FACTOR; APOPTOSIS INDUCING FACTOR 1; COMPLEX V; CYTOCHROME C OXIDASE; FLAVINE ADENINE NUCLEOTIDE; GLYCERALDEHYDE 3 PHOSPHATE DEHYDROGENASE; MITOCHONDRIAL DNA; OXIDOREDUCTASE; PORIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG; AIFM1 PROTEIN, HUMAN; MUTANT PROTEIN;

ACTION POTENTIAL; AIFM1 GENE; AMINO ACID SUBSTITUTION; AREFLEXIA; ARTICLE; ATAXIA; BINDING SITE; CASE REPORT; CEREBELLUM ATROPHY; CHILD; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSPHAGIA; EXOME; EXTERNAL OPHTHALMOPLEGIA; FEMALE; GENE; GENOTYPE; HEARING IMPAIRMENT; HEMIZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MYOPATHY; NEUROPATHY; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENICITY; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PSYCHOMOTOR DEVELOPMENT; PTOSIS; RESPIRATORY FAILURE; SCHOOL CHILD; SENSORY NERVE CONDUCTION; TONIC CLONIC SEIZURE; ADOLESCENT; ADULT; DEGENERATIVE DISEASE; FAMILY HEALTH; GENETIC DISORDER; GENETICS; INFANT; METABOLISM; MUSCLE DISEASE; NEWBORN; PATHOLOGY; YOUNG ADULT;

ADOLESCENT; ADULT; APOPTOSIS INDUCING FACTOR; ATAXIA; CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; GENETIC DISEASES, INBORN; HUMANS; INFANT; INFANT, NEWBORN; MALE; MITOCHONDRIAL DISEASES; MUSCULAR DISEASES; MUTANT PROTEINS; MUTATION, MISSENSE; NEURODEGENERATIVE DISEASES; YOUNG ADULT;

EID: 84921296493     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2015.01.001     Document Type: Article

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