MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): A new X-linked mitochondrial disorder

European Journal of Human Genetics

Volumn 10, Issue 4, 2002, Pages 226-230

  Leshinsky Silver, Esther ^a   Zinger, Ami ^b   Bibi, Chaim N ^c   Barash, Varda ^d   Sadeh, Menachem ^a   Lev, Dorit ^a   Sagie, Tally Lerman ^a  

^a WOLFSON MEDICAL CENTER   (Israel)

^b KAPLAN MEDICAL CENTER   (Israel)

^c BARZILAI MEDICAL CENTER   (Israel)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

MEHMO; mtDNA; Respiratory chain; X linked mental retardation

Indexed keywords

CORTICOTROPIN; LIPID; VIGABATRIN;

ARTICLE; CASE REPORT; CELL PROLIFERATION; CHROMOSOME XP; DENSE BODY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTRON MICROSCOPY; GENE LOCUS; HISTOLOGY; HUMAN; HYPOGONADISM; LACTIC ACIDOSIS; LIPID STORAGE; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MITOCHONDRION; MUSCLE BIOPSY; OBESITY; PRIORITY JOURNAL; RESPIRATORY CHAIN; SEIZURE; SYNDROME; SYNDROME MEHMO; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; ACIDOSIS, LACTIC; DNA, MITOCHONDRIAL; EPILEPSY; GENITALIA; HUMANS; HYPOGONADISM; INFANT; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; MICROCEPHALY; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; OBESITY; SYNDROME; X CHROMOSOME;

EID: 85047698029     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200791     Document Type: Article

References (8)

1. Microcephalic nanism, severe retardation, hypertonia, obesity, and hypogonadism in two brothers: A new syndrome?
2. MEHMO (mental retardation, epileptic seizures, hypogonadism and genitalism, microcephaly, obesity), a novel syndrome: Assignment of disease locus to Xp21.1-p22.13
3. MEHMO, a novel syndrome: Assignment of disease locus to Xp21.1-p22.13. A letter
4. Biochemical and molecular investigations in respiratory chain deficiencies
5. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness
6. Human ABC7 transporter: Gene structure and mutations causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation
7. A novel X-linked gene, G4.5. is responsible for Barth syndrome
8. Isolation, mapping and genomic structure of an X-linked gene for a subunit of the human mitochondrial complex 1