Mitochondrial abnormalities in oculopharyngeal muscular dystrophy | Zendy

Pauzner Rachel | Zendy; Blatt Ilan | Zendy; Mouallem Meir | Zendy; BenDavid Eitan | Zendy; Farfel Zvi | Zendy; Sadeh Menachem | Zendy

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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.

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