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Mitochondrial abnormalities in oculopharyngeal muscular dystrophy
Author(s) -
Pauzner Rachel,
Blatt Ilan,
Mouallem Meir,
BenDavid Eitan,
Farfel Zvi,
Sadeh Menachem
Publication year - 1991
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880141004
Subject(s) - oculopharyngeal muscular dystrophy , mitochondrial myopathy , muscle biopsy , pathology , myopathy , muscular dystrophy , inclusion bodies , medicine , mitochondrion , pharyngeal muscles , biopsy , anatomy , biology , mitochondrial dna , genetics , pharynx , escherichia coli , gene
A family with oculopharyngeal muscular dystrophy (OPMD) is described. Histological and histochemical studies of muscle biopsy showed nonspecific myopathic changes; no “ragged‐red” fibers were seen. Electron microscopy demonstrated bizarre large mitochondria with abnormal cristae, but no intranuclear inclusion bodies. Our findings are compatible with the possibility that OPMD is a heterogeneous syndrome, and may be a manifestation of mitochondrial myopathy.