MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families

BMC Medical Genetics

Volumn 11, Issue 1, 2010, Pages

  Braathen, Geir J ^a,b   Sand, Jette C ^a   Lobato, Ana ^a   Høyer, Helle ^b   Russell, Michael B ^a  

^a AKERSHUS UNIVERSITY HOSPITAL   (Norway)

^b TELEMARK HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 32; MITOFUSIN 2; MYELIN PROTEIN; MYELIN PROTEIN ZERO; PERIPHERAL MYELIN PROTEIN 22; UNCLASSIFIED DRUG; MEMBRANE PROTEIN; MFN2 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN;

ARTICLE; CHARCOT MARIE TOOTH TYPE 2; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FAMILIAL DISEASE; FEMALE; GENETIC ANALYSIS; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MISSENSE MUTATION; NORWAY; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; SEQUENCE ANALYSIS; ADULT; CHILD; FAMILY; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; PEDIGREE; PRESCHOOL CHILD;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MITOCHONDRIAL PROTEINS; NORWAY; PEDIGREE; POINT MUTATION; YOUNG ADULT;

EID: 77951641282     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-11-48     Document Type: Article

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