Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations

Archives of Neurology

Volumn 66, Issue 12, 2009, Pages 1511-1516

  Calvo, Judith ^a,l   Funalot, Benoît ^a,b   Ouvrier, Robert A ^c   Lazaro, Leila ^d   Toutain, Annick ^e   De Mas, Philippe ^f   Bouche, Pierre ^g   Gilbert Dussardier, Brigitte ^h   Arne Bes, Marie Christine ⁱ   Carrière, Jean Pierre ⁱ   Journel, Hubert ^j   Minot Myhie, Marie Christine ^k   Guillou, Claire ^h   Ghorab, Karima ^a   Magy, Laurent ^a   Sturtz, Franck ^b   Vallat, Jean Michel ^a   Magdelaine, Corinne ^b  

^a LIMOGES UNIVERSITY HOSPITAL   (France)

^b DUPUYTREN UNIVERSITY HOSPITAL   (France)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d RENNES UNIVERSITY HOSPITAL   (France)

^e UNIVERSITY HOSPITAL OF TOURS   (France)

^f Clinique Saint Jean Languedoc   (France)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^h POITIERS UNIVERSITY HOSPITAL   (France)

ⁱ TOULOUSE UNIVERSITY HOSPITAL   (France)

^j CH Bretagne Atlantique ^*  (France)

^k Cabinet de Neurologie   (France)

^l DEPARTAMENTO DE BIOQUÍMICA   (Uruguay)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 32; MITOFUSIN 2; MYELIN PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTRON MICROSCOPY; FEMALE; GENE SEQUENCE; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOTOR NERVE CONDUCTION; MUTATION RATE; NERVE BIOPSY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SURAL NERVE;

ADOLESCENT; ADULT; AGED; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; GENETIC MARKERS; GENOTYPE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; PHENOTYPE; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 73549111096     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2009.284     Document Type: Article

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