Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations

Neurology

Volumn 77, Issue 2, 2011, Pages 168-173

  Polke, J M ^a   Laura M ^b   Pareyson, D ^c   Taroni, F ^c   Milani, M ^c   Bergamin, G ^d   Gibbons, V S ^a   Houlden, H ^b   Chamley, S C ^a   Blake, J ^e   DeVile, C ^f   Sandford, R ^g   Sweeney, M G ^a   Davis, M B ^a   Reilly, M M ^b  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d UNIVERSITY OF PADOVA   (Italy)

^e NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOFUSIN 2;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN ELECTROPHYSIOLOGY; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; FEMALE; GENE DELETION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 80051534879     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182242d4d     Document Type: Article

References (13)

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