Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutations

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 83, Issue 1, 2012, Pages 115-

  Bathgate, Deborah ^a   Yu Wai Man, Patrick ^b   Webb, Brian ^a   Taylor, Robert W ^b   Fowler, Brian ^c   Chinnery, Patrick F ^b  

^a JAMES COOK UNIVERSITY HOSPITAL   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BETA N ACETYLHEXOSAMINIDASE; BETAINE; CYANOCOBALAMIN; DNA; FLAVINE ADENINE NUCLEOTIDE; MITOCHONDRIAL DNA; RIBOFLAVIN; THIAMINE; VERY LONG CHAIN FATTY ACID;

ADULT; BEHAVIOR CHANGE; CASE REPORT; CLINICAL EXAMINATION; DISEASE ASSOCIATION; DNA SEQUENCE; ELECTROMYOGRAPHY; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; ETHNIC GROUP; EVOKED VISUAL RESPONSE; EYE EXAMINATION; FATTY ACID BLOOD LEVEL; GENE MUTATION; HUMAN; KERATOCONUS; LETTER; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PAKISTAN; PAKISTANI; PRIORITY JOURNAL; SIBLING; SPASTIC PARESIS; VITAMIN BLOOD LEVEL; WALKING DIFFICULTY;

EID: 84155167517     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2010.218586     Document Type: Letter

References (5)

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