Dropped-head in recessive oculopharyngeal muscular dystrophy

Neuromuscular Disorders

Volumn 25, Issue 11, 2015, Pages 869-872

  Garibaldi, Matteo ^a   Pennisi, Elena Maria ^b   Bruttini, Mirella ^c,d   Bizzarri, Veronica ^c,d   Bucci, Elisabetta ^a   Morino, Stefania ^a   Talerico, Caterina ^e   Stoppacciaro, Antonella ^e   Renieri, Alessandra ^c,d   Antonini, Giovanni ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b SAN FILIPPO NERI HOSPITAL   (Italy)

^c UNIVERSITY OF SIENA   (Italy)

^d UNIVERSITY HOSPITAL OF SIENA   (Italy)

^e SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Dropped head; Oculopharyngeal muscular dystrophy; Recessive OPMD

Indexed keywords

CYTOCHROME C OXIDASE; GENOMIC DNA; PABPN1 PROTEIN, HUMAN; POLYADENYLIC ACID BINDING PROTEIN;

AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DELTOID MUSCLE; DISEASE COURSE; DISEASE DURATION; DISEASE SEVERITY; DROPPED HEAD SYNDROME; DYSPHAGIA; DYSPHONIA; ELECTROMYOGRAM; FEMALE; GENE; GENETIC ANALYSIS; GENOTYPE; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; MEDICAL HISTORY; MUSCLE BIOPSY; MUSCLE STRENGTH; MUSCLE WEAKNESS; NECK MUSCLE; NERVE STIMULATION; NEUROMUSCULAR DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; ORBICULARIS OCULI MUSCLE; PABPN1 GENE; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; SCHIZOPHRENIA; SEQUENCE ANALYSIS; TONGUE; BODY POSTURE; CAUCASIAN; GENETICS; HEAD; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL; PATHOLOGY; PATHOPHYSIOLOGY; RECESSIVE GENE;

AGED; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENES, RECESSIVE; HEAD; HUMANS; MAGNETIC RESONANCE IMAGING; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL; NECK MUSCLES; PHENOTYPE; POLY(A)-BINDING PROTEIN I; POSTURE;

EID: 84945334830     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2015.08.011     Document Type: Article

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