Letter to the editor: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Brain

Volumn 137, Issue 10, 2014, Pages

  Bonneau, Dominique ^a   Colin, Estelle ^a   Oca, Florine ^a   Ferre, Marc ^a   Chevrollier, Arnaud ^a   Guéguen, Naïg ^a   Desquiret Dumas, Valérie ^a   N'Guyen, Sylvie ^a   Barth, Magalie ^a   Zanlonghi, Xavier ^b   Rio, Marlène ^c   Desguerre, Isabelle ^d   Barnerias, Christine ^d   Momtchilova, Marta ^d   Rodriguez, Diana ^e   Slama, Abdelhamid ^f   Lenaers, Guy ^g   Procaccio, Vincent ^a   Amati Bonneau, Patrizia ^a   Reynier, Pascal ^a  

^a ANGERS UNIVERSITY HOSPITAL   (France)

^b Clinique Sourdille   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^e ARMAND TROUSSEAU HOSPITAL   (France)

^f BICÊTRE HOSPITAL   (France)

^g HÔPITAL SAINT ELOI   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GUANOSINE TRIPHOSPHATASE; OPA1 PROTEIN, HUMAN;

ADOLESCENT; ATAXIA; AUTOSOMAL DOMINANT OPTIC ATROPHY; BLINDNESS; CASE REPORT; CHILD; CONSTIPATION; DYSPHAGIA; FEMALE; GENETICS; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; LETTER; MALE; METABOLISM; MUSCLE SPASM; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OPTIC NERVE ATROPHY; PATHOLOGY; PERIPHERAL NEUROPATHY; PHYSIOLOGY;

ADOLESCENT; AGE OF ONSET; ATAXIA; BLINDNESS; CHILD; CONSTIPATION; DEGLUTITION DISORDERS; DNA; FEMALE; GTP PHOSPHOHYDROLASES; HEARING LOSS; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; OPTIC ATROPHY; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PERIPHERAL NERVOUS SYSTEM DISEASES; SPASM;

EID: 84908472961     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu184     Document Type: Letter

References (10)

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