MFN2 mutations cause severe phenotypes in most patients with CMT2A

Neurology

Volumn 76, Issue 20, 2011, Pages 1690-1696

  Feely, S M E ^a   Laura, M ^c   Siskind, C E ^a   Sottile, S ^a   Davis, M ^c   Gibbons, V S ^c   Reilly, M M ^c   Shy, M E ^a,b,d  

^a Department of Neurology ^*  (United States)

^b WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d WAYNE STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE; MITOFUSIN 2;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHARCOT MARIE TOOTH NEUROPATHY SCORE; CHILD; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MOTOR NEUROPATHY; NEUROPHYSIOLOGY; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; PROPRIOCEPTION; PROTEIN DOMAIN; SCHOOL CHILD; SCORING SYSTEM; SENSORY DYSFUNCTION; WALKING DIFFICULTY; WEAKNESS;

EID: 79957517676     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31821a441e     Document Type: Article

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