[Oculopharyngeal muscle dystrophy. Genetic diagnosis in a family in Germany].
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant myopathy with almost benign course. Its clinical features include ptosis, dysphagia, and proximal limb muscle weakness. The OPMD gene has been localized to chromosome 14, causing expansions of GCG triplets. Scattered families with OPMD belonging to different ethnic groups have been described worldwide. We describe one from northern Germany. In genetic diagnosis, expansion of GCG triplets to 11 was observed, which proved that myopathy, which is very rare in Germany.
Mohammadi
B
B
Neurologische Klinik der Medizinischen Hochschule Hannover, Carl-Neuberg-Str. 1, 30625 Hannover.
Bufler
J
J
Kress
W
W
Brandis
A
A
Walter
G F
GF
Dengler
R
R
Heidenreich
F
F
D001763:Blepharoptosis / Q000175:diagnosis / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005799:Genes, Dominant / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D018911:Trinucleotide Repeats / Q000235:genetics