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GENATLAS PHENOTYPE
last update : 04-03-2015
Symbol XMPMA
Location Xq26.3
Name X-linked myopathy with postural muscle atrophy and generalized hypertrophy
Other name(s)
  • X-linked reducing body myopathy
  • Emery-Dreifuss muscular dystrophy 6, X-linked
    • Corresponding gene FHL1
    Other symbol(s) EDMD6
    Main clinical features
  • adult-onset scapulo-axo-peroneal myopathy with bent-spine syndrome characterized by specific atrophy of postural muscles along with pseudoathleticism or hypertrophy and cardiac involvement
  • characterized by weakness in the shoulder-girdle and peroneal muscles
    • Genetic determination sex linked
    Related entries . including X-linked reducing body myopathy, early onset severe (OMIM 300717) . including X-linked reducing body myopathy childhood onset (OMIM 300718)
    Function/system disorder
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function within the four and a half LIM domain 1 gene (FHL1), which putatively disrupts the fourth LIM domain of the protein
    missense   abnormal protein/loss of function W122S mutation causes focal myofibrillary disarray though possible disruption of stability of sarcomeres and sarcolemma, myofibrillary assembly, transcriptional regulation
    Remark(s)