Autosomal recessive oculopharyngodistal myopathy: A distinct phenotypical, histological, and genetic entity

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 75, Issue 10, 2004, Pages 1499-1501

  Van Der Sluijs, B M ^a   Ter Laak, H J ^a   Scheffer, H ^a   Van Der Maarel, S M ^b   Van Engelen, B G M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BASOPHIL; CASE REPORT; CELL VACUOLE; CLINICAL FEATURE; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE COURSE; EXTERNAL OPHTHALMOPLEGIA; FACE MUSCLE; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC TRAIT; HISTOLOGY; HUMAN; HUMAN TISSUE; LABORATORY TEST; LIMB; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OCULOPHARYNGODISTAL MYOPATHY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SIBLING; TRINUCLEOTIDE REPEAT;

ADULT; AGE OF ONSET; FEMALE; HUMANS; INHERITANCE PATTERNS; MALE; MUSCLE WEAKNESS; MUSCULAR DISEASES; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL; PHENOTYPE; SIBLINGS;

EID: 4644307761     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.2003.025072     Document Type: Article

References (9)

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