Literature DB >> 28694073

Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy.

Manu Jokela1, Sanna Huovinen2, Johanna Palmio3, Anna-Maija Saukkonen4, Sini Penttilä3, Bjarne Udd5.   

Abstract

Entities:  

Keywords:  FHL1; Magnetic resonance imaging; Reducing body myopathy

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Year:  2017        PMID： 28694073     DOI： 10.1016/j.nmd.2017.06.014

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  1 in total

1.  Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy.

Authors:  Anna Gaertner-Rommel; Jens Tiesmeier; Thomas Jakob; Bernd Strickmann; Gunter Veit; Bernd Bachmann-Mennenga; Lech Paluszkiewicz; Karin Klingel; Uwe Schulz; Kai T Laser; Bernd Karger; Heidi Pfeiffer; Hendrik Milting
Journal:  Mol Genet Genomic Med       Date:  2019-07-10       Impact factor: 2.183
  1 in total

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