Article
[Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures].
Der Nervenarzt - 1 Oct 2002
Hanisch F, Neudecker S, Wehnert M, Zierz S
Abstract excerpt
Hauptmann-Thannhauser muscular dystrophy is characterized by the clinical triad of early-onset contractures of elbow, Achilles tendons, and cervical spine, slowly progressive humeroperoneal muscle wasting and weakness, and life-threatening cardiac involvement with conduction blocks manifesting in the third decade. Hauptmann-Thannhauser muscular dystrophy is due to mutations in the LMNA gene affecting the nuclear...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
