Myofibrillary myopathy due to the ZASP mutation Ala147Thr : two cases with exclusively distal leg involvement

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 us...

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Bibliographic Details
Published in:Nervenarzt 2013-02, Vol.84 (2), p.209
Main Authors: Kraya, T, Kress, W, Stoevesant, D, Deschauer, M, Zierz, S
Format: Article
Language:ger
Subjects:
Adaptor Proteins, Signal Transducing - genetics
Aged
Alanine - genetics
Biopsy
Distal Myopathies - diagnosis
Distal Myopathies - genetics
Distal Myopathies - pathology
DNA Mutational Analysis
Female
Genetic Carrier Screening
Humans
LIM Domain Proteins - genetics
Magnetic Resonance Imaging
Muscle Weakness - diagnosis
Muscle Weakness - genetics
Muscle, Skeletal - pathology
Muscular Dystrophies - diagnosis
Muscular Dystrophies - genetics
Muscular Dystrophies - pathology
Neurologic Examination
Phenotype
Threonine - genetics
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Summary: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.
ISSN:1433-0407
DOI:10.1007/s00115-012-3689-0