Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria

Archives of Neurology

Volumn 68, Issue 10, 2011, Pages 1293-1300

  Klein, Christopher J ^a   Kimmel, Grace W ^b   Pittock, Sean J ^a   Engelstad, JaNean E ^a   Cunningham, Julie M ^a   Wu, Yanhong ^a   Dyck, Peter J ^a  

^a MAYO CLINIC   (United States)

^b UNIVERSITY OF MIAMI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA1A INTERFERON; GUANOSINE TRIPHOSPHATASE; LEUCINE; MITOFUSIN 2; PHENYLALANINE; MEMBRANE PROTEIN; MFN2 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN;

ADULT; AGED; AMERICAN INDIAN; AMINO ACID SUBSTITUTION; ARTICLE; CAUCASIAN; CELL LOSS; CLINICAL ARTICLE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; FAMILY STUDY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; IMMOBILIZATION; MALE; MFN2 GENE; MITOCHONDRION; MULTIPLE SCLEROSIS; NERVE BIOPSY; NERVE FIBER; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OPTIC NERVE ATROPHY; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SENSORY NEUROPATHY; SURAL NERVE; BRAIN; ETHNOLOGY; EUROPE; FAMILY HEALTH; GENETIC SCREENING; GENETICS; METHODOLOGY; MIDDLE AGED; PATHOLOGY; TRANSMISSION ELECTRON MICROSCOPY; ULTRASTRUCTURE; CENTRAL NERVOUS SYSTEM DISEASE; CONTROLLED STUDY; DISEASE ASSOCIATION; EVALUATION RESEARCH; MUTATIONAL ANALYSIS; NERVE MITOCHONDRION; NEUROIMAGING; PHENOTYPIC VARIATION; SENSORIMOTOR NEUROPATHY;

ADULT; AGED; BRAIN; CHARCOT-MARIE-TOOTH DISEASE; EUROPE; FAMILY HEALTH; FEMALE; GENETIC TESTING; HUMANS; INDIANS, NORTH AMERICAN; LEUCINE; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; PHENOTYPE; PHENYLALANINE; SURAL NERVE;

EID: 80053928800     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.225     Document Type: Article

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