Oculopharyngeal muscular dystrophy: Phenotypic and genotypic characteristics of 9 Polish patients

Neurologia i Neurochirurgia Polska

Volumn 43, Issue 2, 2009, Pages 113-120

  Nadaj Pakleza, Aleksandra ^a,b   Richard, Pascale ^b   Łusakowska, Anna ^a   Gajewska, Joanna ^a   Jamrozik, Zygmunt ^a   Kostera Pruszczyk, Anna ^a   Kwieciński, Hubert ^a   Kamińska, Anna ^a,c  

^a MEDICAL UNIVERSITY OF WARSAW   (Poland)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

Author keywords

Electron microscopy; Light microscopy; Muscle biopsy; Oculopharyngeal muscular dystrophy; PABPN1

Indexed keywords

CYTIDINE; GUANOSINE;

ADULT; AGED; ARTICLE; CELL NUCLEUS INCLUSION BODY; CLINICAL ARTICLE; DIPLOPIA; DYSPHAGIA; EXTERNAL OPHTHALMOPLEGIA; FEMALE; GENETIC ANALYSIS; GENOTYPE; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; NUCLEOTIDE REPEAT; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PHENOTYPE; POLAND; PTOSIS;

ADULT; AGED; BIOPSY; CELL NUCLEUS; DIAGNOSIS, DIFFERENTIAL; ELECTROMYOGRAPHY; FEMALE; GENOTYPE; HUMANS; INTRANUCLEAR INCLUSION BODIES; MALE; MIDDLE AGED; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL; MUTATION; PEDIGREE; PHENOTYPE; POLY(A)-BINDING PROTEIN I;

EID: 67649105782     PISSN: 00283843     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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