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

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

•We identified a novel mutation in FHL1 gene.•Muscle biopsy showed a reducing body myopathy.•Marked gluteus maximus hypertrophy was noted on MRI.

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Veröffentlicht in:Neuromuscular disorders : NMD 2017-10, Vol.27 (10), p.962-963
Hauptverfasser: Jokela, Manu, Huovinen, Sanna, Palmio, Johanna, Saukkonen, Anna-Maija, Penttilä, Sini, Udd, Bjarne
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Sprache:eng
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FHL1
Magnetic resonance imaging
Reducing body myopathy
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container_title Neuromuscular disorders : NMD
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creator Jokela, Manu
Huovinen, Sanna
Palmio, Johanna
Saukkonen, Anna-Maija
Penttilä, Sini
Udd, Bjarne
description •We identified a novel mutation in FHL1 gene.•Muscle biopsy showed a reducing body myopathy.•Marked gluteus maximus hypertrophy was noted on MRI.
doi_str_mv 10.1016/j.nmd.2017.06.014
format Article
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subjects FHL1
Magnetic resonance imaging
Reducing body myopathy
title Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy
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