A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation [3]

Journal of Neurology

Volumn 255, Issue 1, 2008, Pages 127-129

  Liguori, M ^a   La Russa, A ^a   Manna, I ^a   Andreoli, V ^a   Caracciolo, M ^a   Spadafora, P ^a   Cittadella, R ^a   Quattrone, A ^a,b  

^a INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^b UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; DISEASE ASSOCIATION; DISEASE COURSE; GENE; GENE MUTATION; GENE SEQUENCE; HEARING IMPAIRMENT; HUMAN; LETTER; NUCLEAR MAGNETIC RESONANCE IMAGING; OPA1 GENE; OPTIC NERVE ATROPHY; PERIPHERAL NEUROPATHY; PHENOTYPIC VARIATION; PRIORITY JOURNAL;

ADULT; ATAXIA; CHILD; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; ENERGY METABOLISM; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; GTP PHOSPHOHYDROLASES; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUSCLE WEAKNESS; MUTATION; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; PHENOTYPE; SOMATOSENSORY DISORDERS; SYNDROME;

EID: 38549119549     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-008-0571-x     Document Type: Letter

References (10)

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