Mitochondrial abnormalities in oculopharyngeal muscular dystrophy

Rachel Pauzner; Ilan Blatt; Meir Mouallem; Eitan Ben‐David; Zvi Farfel; Menachem Sadeh

doi:10.1002/mus.880141004

Mitochondrial abnormalities in oculopharyngeal muscular dystrophy

Rachel Pauzner, Ilan Blatt, Meir Mouallem, Eitan Ben‐David, Zvi Farfel, Menachem Sadeh

Clinical Departments

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	947-952
Number of pages	6
Journal	Muscle and Nerve
Volume	14
Issue number	10
DOIs	https://doi.org/10.1002/mus.880141004
State	Published - Oct 1991

Keywords

mitochondrial myopathy
muscular dystrophy
oculomyopathy
oculopharyngeal muscular dystrophy

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10.1002/mus.880141004

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abstract = "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.",

keywords = "mitochondrial myopathy, muscular dystrophy, oculomyopathy, oculopharyngeal muscular dystrophy",

author = "Rachel Pauzner and Ilan Blatt and Meir Mouallem and Eitan Ben‐David and Zvi Farfel and Menachem Sadeh",

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AU - Farfel, Zvi

AU - Sadeh, Menachem

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AB - 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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KW - muscular dystrophy

KW - oculomyopathy

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Mitochondrial abnormalities in oculopharyngeal muscular dystrophy

Abstract

Keywords

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