Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type

LGMD1D is an autosomal dominant limb girdle muscular dystrophy caused by variants in the DNAJB6 gene. This is typically an adult-onset disorder characterized by moderately progressive proximal muscle weakness without respiratory or bulbar involvement; however phenotypic variability is often observed...

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Veröffentlicht in:	European journal of medical genetics 2020-02, Vol.63 (2), p.103655-103655, Article 103655
Hauptverfasser:	Zima, Judith, Eaton, Alison, Pál, Endre, Till, Ágnes, Ito, Yoko A., Warman-Chardon, Jodi, Hartley, Taila, Cagnone, Gael, Melegh, Bela I., Boycott, Kym M., Melegh, Béla, Hadzsiev, Kinga
Format:	Artikel
Sprache:	eng
Schlagworte:	DNAJB6 Exome sequencing Genotype-phenotype correlation LGMD1D Limb-girdle muscular dystrophy (LGMD)
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