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MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder.
Eur J Hum Genet. 2002 Apr; 10(4):226-30.EJ

Abstract

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) is an X-linked disorder characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It was recently assigned to the locus Xp21.1-p22.13. We describe a child with MEHMO and lactic acidosis whose muscle biopsy revealed markedly reduced activities of complexes 1,3 and 4 of the mitochondrial electron transport chain. Histological staining showed mitochondrial proliferation and lipid storage. Electron microscopy revealed abnormal and enlarged mitochondria with concentric cristae and electron dense bodies. This is the first identification of MEHMO as a mitochondrial disorder and one of the very few X-linked mitochondrial syndromes.

Authors+Show Affiliations

Molecular Genetics laboratory and Institute of Physiologic Hygiene, Wolfson Medical Center, Holon, Israel.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12032729

Citation

Leshinsky-Silver, Esther, et al. "MEHMO (Mental Retardation, Epileptic Seizures, Hypogenitalism, Microcephaly, Obesity): a New X-linked Mitochondrial Disorder." European Journal of Human Genetics : EJHG, vol. 10, no. 4, 2002, pp. 226-30.
Leshinsky-Silver E, Zinger A, Bibi CN, et al. MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder. Eur J Hum Genet. 2002;10(4):226-30.
Leshinsky-Silver, E., Zinger, A., Bibi, C. N., Barash, V., Sadeh, M., Lev, D., & Sagie, T. L. (2002). MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder. European Journal of Human Genetics : EJHG, 10(4), 226-30.
Leshinsky-Silver E, et al. MEHMO (Mental Retardation, Epileptic Seizures, Hypogenitalism, Microcephaly, Obesity): a New X-linked Mitochondrial Disorder. Eur J Hum Genet. 2002;10(4):226-30. PubMed PMID: 12032729.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder. AU - Leshinsky-Silver,Esther, AU - Zinger,Ami, AU - Bibi,Chaim N, AU - Barash,Varda, AU - Sadeh,Menachem, AU - Lev,Dorit, AU - Sagie,Tally Lerman, PY - 2001/11/20/received PY - 2002/01/23/revised PY - 2002/01/31/accepted PY - 2002/5/29/pubmed PY - 2002/10/9/medline PY - 2002/5/29/entrez SP - 226 EP - 30 JF - European journal of human genetics : EJHG JO - Eur J Hum Genet VL - 10 IS - 4 N2 - MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) is an X-linked disorder characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It was recently assigned to the locus Xp21.1-p22.13. We describe a child with MEHMO and lactic acidosis whose muscle biopsy revealed markedly reduced activities of complexes 1,3 and 4 of the mitochondrial electron transport chain. Histological staining showed mitochondrial proliferation and lipid storage. Electron microscopy revealed abnormal and enlarged mitochondria with concentric cristae and electron dense bodies. This is the first identification of MEHMO as a mitochondrial disorder and one of the very few X-linked mitochondrial syndromes. SN - 1018-4813 UR - https://www.unboundmedicine.com/medline/citation/12032729/MEHMO__Mental_retardation_Epileptic_seizures_Hypogenitalism_Microcephaly_Obesity_:_a_new_X_linked_mitochondrial_disorder_ L2 - https://doi.org/10.1038/sj.ejhg.5200791 DB - PRIME DP - Unbound Medicine ER -