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Dokumenttyp:
journal article 
Autor(en):
Musumeci, Olimpia; Thieme, Andrea; Claeys, Kristl G; Wenninger, Stephan; Kley, Rudolf A; Kuhn, Marius; Lukacs, Zoltan; Deschauer, Marcus; Gaeta, Michele; Toscano, Antonio; Gläser, Dieter; Schoser, Benedikt 
Titel:
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum. 
Abstract:
Homozygosity for the common Caucasian splice site mutation c.-32-13T>G in intron 1 of the GAA gene is rather rare in Pompe patients. We report on the clinical, biochemical, morphological, muscle imaging, and genetic findings of six adult Pompe patients from five unrelated families with the c.-32-13T>G GAA gene mutation in homozygous state. All patients had decreased GAA activity and elevated creatine kinase levels. Five patients, aged between 43 and 61 years (median 53 years), initially presente...    »
 
Zeitschriftentitel:
Neuromuscul Disord 
Jahr:
2015 
Band / Volume:
25 
Heft / Issue:
Seitenangaben Beitrag:
719-24 
Sprache:
eng 
Print-ISSN:
0960-8966 
TUM Einrichtung:
Neurologische Klinik und Poliklinik