A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

European Journal of Human Genetics

Volumn 24, Issue 3, 2016, Pages 463-466

  Diodato, Daria ^a   Tasca, Giorgio ^a   Verrigni, Daniela ^a   D'Amico, Adele ^a   Rizza, Teresa ^a   Tozzi, Giulia ^a   Martinelli, Diego ^a   Verardo, Margherita ^a   Invernizzi, Federica ^b   Nasca, Alessia ^b   Bellacchio, Emanuele ^a   Ghezzi, Daniele ^b   Piemonte, Fiorella ^a   Dionisi Vici, Carlo ^a   Carrozzo, Rosalba ^a   Bertini, Enrico ^a  

^a Children Research Hospital Bambino Ges'   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

APOPTOSIS INDUCING FACTOR; CASPASE; AIFM1 PROTEIN, HUMAN;

AIFM1 GENE; ARTICLE; CASE REPORT; COGNITIVE DEFECT; COWCHOCK SYNDROME; CYTOCHROME C OXIDASE DEFICIENCY; DISEASE SEVERITY; ELECTROMYOGRAPHY; GENE; GENE LOCATION; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; INFANT; MALE; MITOCHONDRIAL ENCEPHALOPATHY; MOTOR NEURON DISEASE; MUSCLE BIOPSY; MUSCLE DENERVATION; OXIDATIVE PHOSPHORYLATION; PHENOTYPE; PRIORITY JOURNAL; SENSORIMOTOR NEUROPATHY; X CHROMOSOME; AMINO ACID SEQUENCE; CHEMISTRY; FAMILY; GENETIC PREDISPOSITION; GENETICS; MOLECULAR GENETICS; MUTATION; NEWBORN; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; APOPTOSIS INDUCING FACTOR; FAMILY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MOTOR NEURON DISEASE; MUTATION; PHENOTYPE; SEQUENCE ALIGNMENT;

EID: 84958163242     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.141     Document Type: Article

References (13)

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