Familial adult-onset Pompe disease associated with unusual clinical and histological features

The adult-onset form of Pompe disease had a wide clinical spectrum, ranging from asymptomatic patients with increased CK to muscle cramps and pain syndrome or rigid-spine syndrome. In addition clinical severity and disease progression are greatly variable. We report on a family with 3 siblings chara...

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Détails bibliographiques
Auteurs principaux: MAGGI, LORENZO, SALERNO, FRANCO, BRAGATO, CINZIA, SAREDI, SIMONA, BLASEVICH, FLAVIA, MACCAGNANO, ELIO, PASANISI, BARBARA, DANESINO, CESARE, MORA, MARINA, MORANDI, LUCIA
Format: Artigo
Langue:Inglês
Publié: Pacini Editore SpA 2013
Sujets:
Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3866895/
https://ncbi.nlm.nih.gov/pubmed/24399864
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