Phenotypic spectrum of MFN2 mutations in the Spanish population

Journal of Medical Genetics

Volumn 47, Issue 4, 2010, Pages 249-256

  Casasnovas Pons, Carlos ^a   Banchs, I ^b   Cassereau, J ^c,d   Gueguen, N ^c,d   Chevrollier, A ^c,d   Martinez Matos J A ^a   Bonneau, D ^c,d   Volpini, V ^b  

^a HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^b BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^c INSERM   (France)

^d ANGERS UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MITOFUSIN 2;

ARTICLE; BIOENERGY; BREATHING RATE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DNA SEQUENCE; DOMINANT INHERITANCE; EXON; FIBROBLAST; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; NEUROPATHY; OPTIC NERVE ATROPHY; PHENOTYPE; PRIORITY JOURNAL; SKIN BIOPSY; SPAIN;

ADENOSINE TRIPHOSPHATE; CELLS, CULTURED; CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOME MAPPING; CITRIC ACID CYCLE; ELECTROPHYSIOLOGICAL PHENOMENA; FIBROBLASTS; HUMANS; MEMBRANE PROTEINS; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUTATION; PHENOTYPE; SKIN; SPAIN; STATISTICS, NONPARAMETRIC;

EID: 77951559072     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.072488     Document Type: Article

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