MFN2, a new gene responsible for mitochondrial DNA depletion

Brain

Volumn 135, Issue 8, 2012, Pages

  Renaldo, Florence ^a,b   Amati Bonneau, Patrizia ^c,d   Slama, Abdelhamid ^e   Romana, Claudia ^a   Forin, Veronique ^a   Doummar, Diane ^a   Barnerias, Christine ^f   Bursztyn, Joseph ^f   Mayer, Michèle ^a   Khouri, Nejib ^a   Billette De Villemeur, Thierry ^a,b   Burglen, Lydie ^a   Reynier, Pascal ^c,d,g   Bernabe Gelot, Antoinette ^a,h   Rodriguez, Diana ^a,b,d,i  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c ANGERS UNIVERSITY HOSPITAL   (France)

^d INSERM   (France)

^e BICÊTRE HOSPITAL   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g Universite d'Angers   (France)

^h Turing Center for Living Systems CENTURI Aix Marseille University   (France)

ⁱ Centre de Reference 'Maladies Neurogenetiques de l'Enfant A l'Adulte'   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; LACTIC ACID; LIPID; MITOCHONDRIAL DNA; MITOFUSIN 2; TRIHEXYPHENIDYL;

AREFLEXIA; ATAXIA; CASE REPORT; CELL RESPIRATION; CEREBROSPINAL FLUID LEVEL; CHILD; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DAMAGE; DNA DAMAGE CHECKPOINT; DNA REPAIR; DYSARTHRIA; DYSKINESIA; DYSMETRIA; ELECTROENCEPHALOGRAPHY; EVOKED BRAIN STEM AUDITORY RESPONSE; EVOKED VISUAL RESPONSE; EXTRACELLULAR MATRIX; FAILURE TO THRIVE; FEMALE; FIBROBLAST; GASTROESOPHAGEAL REFLUX; GENETIC ANALYSIS; GENOMIC INSTABILITY; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HEARING LOSS; HISTOLOGY; HUMAN; HUMAN TISSUE; HYPERSALIVATION; LANGUAGE DISABILITY; LETTER; LIMB WEAKNESS; MENTAL DEFICIENCY; MICROCEPHALY; MISSENSE MUTATION; MITOCHONDRIAL DNA DEPLETION; MOTOR DYSFUNCTION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOSCOPY; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; SCHOOL CHILD; SENSORIMOTOR NEUROPATHY; SKELETAL MUSCLE; SKIN BIOPSY;

EID: 84864720918     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws111     Document Type: Letter

References (11)

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