Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction

Neurology

Volumn 71, Issue 24, 2008, Pages 1959-1966

  Del Bo, R D ^a   Moggio, M ^a   Rango, M ^a   Bonato, S ^b   D'Angelo, M G ^b   Ghezzi, S ^a   Airoldi, G ^b   Bassi, M T ^b   Guglieri, M ^a   Napoli, L ^a   Lamperti, C ^a   Corti, S ^a   Federico, A ^c   Bresolin, N ^a,b   Comi, G P ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

^c UNIVERSITY OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE; MITOFUSIN 2; MEMBRANE PROTEIN; MFN2 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN; PHOSPHATE; UNCLASSIFIED DRUG;

AGED; AMINO ACID SEQUENCE; ARTICLE; BRAIN FUNCTION; BRAIN MITOCHONDRION; CASE REPORT; CHILD; CLINICAL FEATURE; COGNITIVE DEFECT; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTRON MICROSCOPY; FAMILY; FATHER; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HIGH ENERGY PHOSPHATE; HUMAN; ITALY; MALE; MISSENSE MUTATION; NERVE BIOPSY; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OPTIC NERVE DISEASE; PERIPHERAL NEUROPATHY; PHOSPHORUS NUCLEAR MAGNETIC RESONANCE; PRIORITY JOURNAL; PROGENY; PROTEIN DOMAIN; PROTON NUCLEAR MAGNETIC RESONANCE; RANVIER NODE; REST; SCHOOL CHILD; SPASTIC PARAPLEGIA; SURAL NERVE; VISUAL CORTEX; VISUAL IMPAIRMENT; ADULT; BIOPSY; ENERGY METABOLISM; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HETEROZYGOTE; METABOLIC ENCEPHALOPATHY; METABOLISM; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; VISUAL DISORDER;

ADULT; BIOPSY; BRAIN DISEASES, METABOLIC; CHARCOT-MARIE-TOOTH DISEASE; CHILD; COGNITION DISORDERS; DNA MUTATIONAL ANALYSIS; ENERGY METABOLISM; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HETEROZYGOTE; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; PHOSPHATES; SURAL NERVE; VISION DISORDERS; VISUAL CORTEX;

EID: 58149400349     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000327095.32005.a4     Document Type: Article

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