[Differential congenital myasthenia syndrome diagnosis]

Autor:	S, Spuler, T-N, Lehmann, A G, Engel
Jazyk:	němčina
Rok vydání:	2004
Předmět:	Adult Diagnosis Differential Myasthenic Syndromes Congenital Neurologic Examination Consanguinity Biopsy DNA Mutational Analysis Humans Female Receptors Cholinergic Chromosome Deletion Muscle Skeletal Peptide Fragments
Zdroj:	Der Nervenarzt. 75(2)
ISSN:	0028-2804
Popis:	Among myopathies and disorders of neuromuscular transmission, the congenital myasthenic syndromes (CMS) are particularly rare. However, because of the available therapeutic options, it is still clinically important to achieve a correct diagnosis in these patients. We report an adult patient with ophthalmoplegia and nonfluctuating limb-girdle syndrome. For almost 20 years, a congenital myopathy or mitochondriopathy had been suspected before CMS was diagnosed caused by an epsilon subunit mutation of the acetylcholine receptor (epsilon1276delG).
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::a40d9277fc8d7a72c86396de9b753c40 https://pubmed.ncbi.nlm.nih.gov/14770284 Zobrazit plný text záznamu Full text from SpringerLink