Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: A clinical, biochemical, and molecular study in six families

Journal of Neurology Neurosurgery and Psychiatry

Volumn 63, Issue 1, 1997, Pages 16-22

  Uziel, G ^a   Moroni, I ^a   Lamantea, E ^b   Fratta, G M ^d   Ciceri, E ^c   Carrara, F ^b   Zeviani, M ^b,c,e  

^a Division of Child Neurology

^b Division of Biochemistry and Genetics   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

ATPase; Leigh's syndrome; NARP

Indexed keywords

ADENOSINE TRIPHOSPHATE; MITOCHONDRIAL DNA; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

ARTICLE; ATAXIA; AUTOPSY; CLINICAL ARTICLE; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; FAMILY STUDY; FEMALE; FIBROBLAST; HUMAN; HYDROLYSIS; LEIGH DISEASE; LYMPHOCYTE; MALE; MELAS SYNDROME; NEUROMUSCULAR DISEASE; POINT MUTATION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

EID: 0030749664     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.63.1.16     Document Type: Article

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