Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations

Journal of Neuropathology and Experimental Neurology

Volumn 67, Issue 11, 2008, Pages 1097-1102

  Vallat, Jean Michel ^a   Ouvrier, Robert A ^c   Pollard, John D ^d   Magdelaine, Corinne ^b   Zhu, Danqing ^e   Nicholson, Garth A ^e   Grew, Simon ^c   Ryan, Monique M ^f   Funalot, Benoît ^a  

^a Service et Laboratoire de Neurologie   (France)

^b LIMOGES UNIVERSITY HOSPITAL   (France)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^e Department of Microbiology and Infectious Diseases   (Australia)

^f MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

Author keywords

Charcot Marie Tooth; Electron microscopy; Mitochondria; Mitofusin; Mutation; Neuropathology

Indexed keywords

MITOFUSIN 2; MEMBRANE PROTEIN; MFN2 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CELL FUSION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DENSITY; DISEASE ASSOCIATION; GENE MUTATION; GENETIC ASSOCIATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; INFANT; MITOCHONDRION; MORPHOLOGICAL TRAIT; MYELINATED NERVE; NERVE BIOPSY; NERVE FIBER; NERVE FIBER DEGENERATION; NEUROPHYSIOLOGY; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SURAL NERVE; ADULT; FEMALE; GENETICS; LONGITUDINAL STUDY; MALE; METHODOLOGY; MUTATION; PATHOLOGY; TRANSMISSION ELECTRON MICROSCOPY; ULTRASTRUCTURE;

ADULT; AXONS; CHILD; CHILD, PRESCHOOL; FEMALE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; INFANT; LONGITUDINAL STUDIES; MALE; MEMBRANE PROTEINS; MICROSCOPY, ELECTRON, TRANSMISSION; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUTATION; SURAL NERVE; YOUNG ADULT;

EID: 58149241066     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1097/NEN.0b013e31818b6cbc     Document Type: Article

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