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Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy
Author(s) -
Federico A.,
Manneschi L.,
Meloni M.,
Alessandrini C.,
Bardelli A. M.,
Dotti M. T.,
Sabatelli P.
Publication year - 1988
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01804233
Subject(s) - studio , medicine , anatomy , art , visual arts
Leber’s hereditary optic atrophy (McKusick 30890) is characterized by severe abiotrophy of the pregeniculate optic pathway with acute onset in young adults, often without any other neurological symptoms. Most of the affected patients are male, but the disease is usually transmitted by the female. The mechanism of this genetic non-mendelian maternal hereditary transmission is not yet known, but the most probable hypothesis is mitochondrial inheritance, as mitochondria and their genetic heritage are of maternal origin.