Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.
Sign Up to like & getrecommendations! 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
Skeletal muscle immunohistochemistry of acquired and hereditary myopathies
Sign Up to like & getrecommendations! Published in 2021 at "Current Opinion in Rheumatology"
DOI: 10.1097/bor.0000000000000828
Abstract: Purpose of review The continued development in the field of immunohistochemistry (IHC) has improved the ability to diagnose muscle diseases. Many hereditary diseases are diagnosed by the absence or abnormal localization of proteins. Detection of… read more here.
Keywords: acquired hereditary; disease processes; muscle; immunohistochemistry ... See more keywords