Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

Neurology

Volumn 76, Issue 17, 2011, Pages 1524-1526

  Cassereau, J ^a,b,c   Casasnovas, C ^d,e   Gueguen, N ^a,b   Malinge, M C ^b   Guillet, V ^c   Reynier, P ^a,b,c   Bonneau, D ^a,b,c   Amati Bonneau, P ^a,b   Banchs, I ^e   Volpini, V ^e   Procaccio, V ^a,b,c   Chevrollier, A ^a,b  

^a INSERM   (France)

^b ANGERS UNIVERSITY HOSPITAL   (France)

^c UNIVERSITÉ D'ANGERS   (France)

^d HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^e BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

MITOFUSIN 2; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

ADULT; AGED; BIOCHEMISTRY; BIOENERGY; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; ELECTROPHYSIOLOGY; ENERGY METABOLISM; FATALITY; FEMALE; FIBROBLAST; GDAP1 GENE; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; IMAGING; MALE; MITOCHONDRIAL DEFECT; MITOCHONDRION; MOTOR NERVE CONDUCTION; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NOTE; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY FAILURE; SENSORY NEUROPATHY;

EID: 79955509240     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318217e77d     Document Type: Article

References (7)

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