Articles with "hereditary myopathy" as a keyword



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Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.

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Published in 2021 at "Molecular genetics and metabolism"

DOI: 10.1016/j.ymgme.2021.05.005

Abstract: Late-onset Pompe disease (LOPD) is an inherited autosomal recessive progressive metabolic myopathy that presents in the first year of life to adulthood. Clinical presentation is heterogeneous, differential diagnosis is challenging, and diagnostic delay is common.… read more here.

Keywords: hereditary myopathy; acquired hereditary; tongue; atrophy ... See more keywords