GCG Repeats and phenotype in oculopharyngeal muscular dystrophy

Autor:	Rolf Schröder, Stephan Zierz, Tobias Müller
Rok vydání:	2001
Předmět:	Male Pathology medicine.medical_specialty Physiology Biopsy DNA Mutational Analysis Pedigree chart Poly(A)-Binding Proteins Polymerase Chain Reaction Muscular Dystrophies Oculopharyngeal muscular dystrophy Diagnosis Differential Neurogenic changes Cellular and Molecular Neuroscience Germany Physiology (medical) Myasthenia Gravis Blepharoptosis Humans Medicine Age of Onset Muscle Skeletal Aged Genes Dominant Chromosomes Human Pair 14 Muscle Weakness Electromyography business.industry Mitochondrial Myopathies RNA-Binding Proteins Skeletal muscle Middle Aged medicine.disease Phenotype medicine.anatomical_structure Female Neurology (clinical) Age of onset Deglutition Disorders Trinucleotide Repeat Expansion business
Zdroj:	Muscle & Nerve. 24:120-122
ISSN:	1097-4598 0148-639X
DOI:	10.1002/1097-4598(200101)24:1<120::aid-mus17>3.0.co;2-0
Popis:	Short GCG repeat expansions in the PABP2 gene were recently shown to cause oculopharyngeal muscular dystrophy (OPMD) in French-Canadian and Italian pedigrees. We diagnosed OPMD in 16 German patients by the detection of GCG repeat expansions, confirming genetic homogeneity. Myopathic and neurogenic changes were found in skeletal muscle biopsies. Age of onset and severity of disease were not correlated with the number of repeats.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8fba8c20cc63a5fa76b26940093d7b9 https://doi.org/10.1002/1097-4598(200101)24:1<120::aid-mus17>3.0.co Zobrazit plný text záznamu Plný text