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  1. Mitochondrial abnormalities in oculopharyngeal muscular dystrophy
    Wong KT, Dick D, Anderson JR
    Neuromuscul Disord, 1996 May;6(3):163-6.
    PMID: 8784803
    This report describes a 56-yr-old man with a dominantly inherited disorder affecting four generations and characterized by bilateral ptosis and dysphagia. Muscle biopsy showed only minor light microscopic abnormalities but electron microscopy revealed fibres containing paracrystalline mitochondrial inclusions. Southern analysis of mitochondrial DNA obtained from muscle did not reveal mitochondrial gene deletions. An extensive search eventually identified the characteristic intranuclear filaments of oculopharyngeal muscular dystrophy (OPMD). Abnormal mitochondria are non-specific epiphenomena in OPMD but a potential source of confusion with a late-onset mitochondrial cytopathy. This case further emphasizes the necessity for a diligent search for the diagnostic intranuclear filaments when oculopharyngeal muscular dystrophy is suspected clinically.
    Matched MeSH terms: Blepharoptosis/genetics
  2. "Mummy, my eyelids are heavy": A case series of juvenile myasthenia gravis
    Krishna L, Abdul Jalil NF, Lott PW, Singh S, Choo MM
    Eur J Ophthalmol, 2021 Mar;31(2):NP119-NP122.
    PMID: 31390886 DOI: 10.1177/1120672119867605
    PURPOSE: To report three cases of juvenile myasthenia gravis aged between 18 and 24 months with ocular symptoms as their first presentation.

    METHOD: A case series.

    RESULTS: We present a case series of juvenile myasthenia gravis in a tertiary centre in Malaysia. Two of the three cases consist of a pair of twins who presented with ptosis of bilateral eyes; the first twin presented 4 months later than the second twin. These two cases were positive for anti-acetylcholine receptor antibodies and had generalized myasthenia gravis, whereas the other case was negative for receptor antibodies and was purely ocular myasthenia gravis.

    CONCLUSION: Juvenile myasthenia gravis is relatively rare in toddlers. Early diagnosis and commencement of treatment is important to slow the progression of the disease and avoiding life-threatening events.

    Matched MeSH terms: Blepharoptosis/genetics
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