Distal-atrophe Paresen, Hohlfüße und CK-Erhöhung – Ein differenzialdiagnostisches Update

Autor:	A. Lämmer, M. Mäurer, D. F. Heuss, A. Schramm
Rok vydání:	2009
Předmět:	Dysferlinopathy Pathology medicine.medical_specialty biology business.industry Tetraparesis Gene mutation medicine.disease Dysferlin Atrophy Physiology (medical) biology.protein Distal Myopathies Medicine Creatine kinase Neurology (clinical) medicine.symptom business Paresis
Zdroj:	Klinische Neurophysiologie. 40:204-206
ISSN:	1439-4081 1434-0275
DOI:	10.1055/s-0028-1090268
Popis:	Distal myopathies are a heterogeneous group characterised by distal paresis and muscular atrophy, partly caused by gene mutations of different structure proteins. The Miyoshi myopathy is an autosomal recessive dysferlinopathy, accompanied by atrophic calves and an excessive increase of creatine kinase. We report on a 24-year-old patient with talipes, atrophic calves and distal tetraparesis, increased creatine kinase and absent expression of dysferlin and provide a work-up on the differential diagnosis of distal atrophic paresis.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::8b73736aef033acc2757ef5534e14045 https://doi.org/10.1055/s-0028-1090268 Zobrazit plný text záznamu