Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status

Brain

Volumn 119, Issue 3, 1996, Pages 997-1010

  Van Domburg, P H M F ^a,b   Gabreels Festen A A W M ^a   Gabreels F J M ^a   De Coo, R ^a   Ruitenbeek, W ^a   Wesseling, P ^a   Ter Laak, H ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b LAURENTIUS HOSPITAL   (Netherlands)

Author keywords

Ataxia; Mitochondrial encephalomyopathy; Myoclonus epilepsia; Progressive external ophthalmoplegia; Sensory neuropathy

Indexed keywords

LACTIC ACID;

ADULT; ARTICLE; ATAXIA; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; CEREBROSPINAL FLUID LEVEL; CLINICAL ARTICLE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EPILEPTIC STATE; EXTERNAL OPHTHALMOPLEGIA; FEMALE; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRION; MUSCLE BIOPSY; MYELINATED NERVE; MYOCLONUS; NERVE BIOPSY; NERVE DEGENERATION; PRIORITY JOURNAL; SENSORY NEUROPATHY; SKELETAL MUSCLE; SPINAL CORD DORSAL HORN; SPINOCEREBELLAR TRACT; SURAL NERVE;

ADOLESCENT; ADULT; ATAXIA; BIOPSY; DIAGNOSIS, DIFFERENTIAL; DNA, MITOCHONDRIAL; ELECTROENCEPHALOGRAPHY; ELECTROPHYSIOLOGY; EPILEPSIES, MYOCLONIC; FATAL OUTCOME; FEMALE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MALE; MICROSCOPY, ELECTRON; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PEDIGREE; SURAL NERVE;

EID: 0029886656     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/119.3.997     Document Type: Article

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