Mild congenital myopathy due to a novel variation in SPEG gene

Centronuclear myopathies (CNMs) are a subgroup of congenital myopathies (CMs) characterized by muscle weakness, genetic heterogeneity, and predominant type 1 fibers and increased central nuclei in muscle biopsy. Mutations in CNM-causing genes such as MTM1, DNM2, BIN1, RYR1, CACNA1S, TTN, and extraor...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Intractable & Rare Diseases Research 2021/08/31, Vol.10(3), pp.220-222
Hauptverfasser:	Yildirim, Mirac, Balasar, Ozgur, Kose, Engin, Dogan, Melih Timucin
Format:	Artikel
Sprache:	eng
Schlagworte:	centronuclear myopathy congenital myopathy intellectual disability Letter SPEG striated muscle preferentially expressed protein kinase
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!