Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: A case report

BMC Neurology

Volumn 11, Issue , 2011, Pages

  Ronchi, Dario ^a   Cosi, Alessandra ^a   Tonduti, Davide ^b   Orcesi, Simona ^b   Bordoni, Andreina ^a   Fortunato, Francesco ^a   Rizzuti, Mafalda ^a   Sciacco, Monica ^a   Collotta, Martina ^a   Cagdas, Sophie ^c   Capovilla, Giuseppe ^c   Moggio, Maurizio ^a   Berardinelli, Angela ^b   Veggiotti, Pierangelo ^b   Comi, Giacomo P ^a  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^c CARLO POMA HOSPITAL   (Italy)

Author keywords

Leigh Syndrome; LHON; Mitochondrial Complex I; Mitochondrial DNA; MT ND6MT CYB

Indexed keywords

ALANINE; CYTOCHROME B; MITOCHONDRIAL DNA; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HETEROPLASMY; HUMAN; LEIGH DISEASE; MATERNAL BLOOD; MUSCLE MITOCHONDRION; PRESCHOOL CHILD; GENETICS; INFANT; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; POINT MUTATION;

DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; INFANT; LEIGH DISEASE; POINT MUTATION;

EID: 79960192997     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/1471-2377-11-85     Document Type: Article

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