title: [Myofibrillary myopathy due to the ZASP mutation Ala147Thr : two cases with exclusively distal leg involvement].
abstract: This article describes two patients with late onset myofibrillary myopathy due the ZASP mutation Ala147Thr. The Z-band alternatively spliced PDZ motif containing protein (ZASP) is a sarcomeric protein and interacts with α-actinin at the Z-disk. So far, myopathy due the ZASP mutation Ala147Thr was usually associated with distal and proximal involvement. The two patients with the ZASP mutation Ala147Thr described here showed only distal involvement of the legs without proximal weakness and involvement of the upper limb 6 and 19 years after onset of muscle weakness, respectively.
authors.affiliation: Klinik und Poliklinik für Neurologie, Martin-Luther-Universität Halle-Wittenberg, Ernst-Grube-Str. 40, 06120, Halle (Saale), Deutschland. torsten.kraya@medizin.uni-halle.de
authors.forename: T
authors.initials: T
authors.lastname: Kraya
authors.forename: W
authors.initials: W
authors.lastname: Kress
authors.forename: D
authors.initials: D
authors.lastname: Stoevesant
authors.forename: M
authors.initials: M
authors.lastname: Deschauer
authors.forename: S
authors.initials: S
authors.lastname: Zierz
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000368:Aged; D000409:Alanine / Q000235:genetics*; D001706:Biopsy; D004252:DNA Mutational Analysis; D049310:Distal Myopathies / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D060588:LIM Domain Proteins / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D018908:Muscle Weakness / Q000175:diagnosis / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D009460:Neurologic Examination; D010641:Phenotype; D013912:Threonine / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C120696:LDB3 protein, human; D060588:LIM Domain Proteins; D013912:Threonine; D000409:Alanine