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    Progressive dysphagia in limb-girdle muscular dystrophy type 2B.

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    Authors
    Walsh, Richard
    Hill, Fiona
    Breslin, Niall
    Connolly, Sean
    Brett, Francesca M
    Charlton, Richard
    Barresi, Rita
    McCabe, Dominick J H
    Affiliation
    Department of Neurology, The Adelaide and Meath Hospital, Dublin, and the, National Children's Hospital, Trinity College, Tallaght, Dublin 24, Ireland.
    Issue Date
    2012-02-01T10:48:57Z
    MeSH
    Adult
    Deglutition Disorders/*diagnosis/etiology/genetics
    *Disease Progression
    Female
    Humans
    Muscular Dystrophies, Limb-Girdle/complications/diagnosis/genetics
    
    Metadata
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    Citation
    Muscle Nerve. 2011 May;43(5):761-4. doi: 10.1002/mus.22041.
    Journal
    Muscle & nerve
    URI
    http://hdl.handle.net/10147/207879
    DOI
    10.1002/mus.22041
    PubMed ID
    21484829
    Abstract
    Dysphagia has not been reported in genetically confirmed limb-girdle muscular dystrophy type 2B (LGMD2B). A 40-year-old woman reported exercise-induced calf pain at age 34, followed by progressive lower and upper limb weakness. At age 38, progressive dysphagia for solids, and subsequently liquids, ensued. Endoscopic and videofluoroscopic-radiological findings indicated a myopathic swallowing disorder. Molecular genetic analysis confirmed two dysferlin gene mutations consistent with a compound heterozygote state. Progressive dysphagia should be considered as part of the expanding dysferlinopathy phenotype.
    Language
    eng
    ISSN
    1097-4598 (Electronic)
    0148-639X (Linking)
    ae974a485f413a2113503eed53cd6c53
    10.1002/mus.22041
    Scopus Count
    Collections
    Tallaght University Hospital

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