title: Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype.
abstract: We report a 12-year-old patient with mental impairment and proximal muscle weakness who had marked involvement of the shoulder girdle and facial muscles. CK levels were above 7000 U/l, multiplex PCR dystrophin gene deletion screening was negative. Further molecular studies revealed shortened D4Z4 fragments in the patient and his asymptomatic father, establishing the diagnosis of facioscapulohumeral muscular dystrophy (FSHD). Under the assumption of a second disease mechanism, a muscle biopsy was performed which revealed marked dystrophin deficiency. Eventually, a donor splice site mutation (c.4071+1 G>T) was found by direct sequencing of the dystrophin gene in the patient and his mother and confirmed the diagnosis of Becker's muscular dystrophy along with FSHD.
authors.affiliation: Institute for Human Genetics, University Hospital, RWTH Aachen, 52074 Aachen, Germany. srudnik-schoeneborn@ukaachen.de
authors.forename: S
authors.initials: S
authors.lastname: Rudnik-Schöneborn
authors.forename: J
authors.initials: J
authors.lastname: Weis
authors.forename: W
authors.initials: W
authors.lastname: Kress
authors.forename: M
authors.initials: M
authors.lastname: Häusler
authors.forename: K
authors.initials: K
authors.lastname: Zerres
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D016189:Dystrophin