The clinical case of limb-girdle muscle dystrophy 2Q associated with myasthenic syndrome and lung damage

The clinical case of limb-girdle muscle dystrophy 2Q associated with myasthenic syndrome and lung damage

Limb-girdle muscle dystrophy 2Q is one of the rarest forms of plectinopathies and is represented by an isolated muscular dystrophic syndrome, according to two previously described literature reports. There are five forms of plectinopathies, including limb-girdle muscle dystrophy 2Q, are caused by mu...

Full description

Bibliographic Details
Main Authors: S. N. Bardakov, R. V. Deev, M. O. Mavlikeev, Z. R. Umakhanova, P. G. Akhmedova, R. M. Magomedova, K. Z. Zulfugarov, V. A. Tsargush, I. A. Chekmareva, I. A. Yakovlev, G. D. Dalgatov, G. I. Yakubovsky, A. A. Isaev
Format: Article
Language:Russian
Published: ABV-press 2019-11-01
Series:Nervno-Myšečnye Bolezni
Subjects:
plectinopathy
limb-girdle muscle dystrophy 2q
plec gene
plec 1f isoform
whole-exome sequencing
hypercreatinephos-phatemia
myopathy
myasthenic syndrome
non-infection bronchiolitis
muscular dystrophies
Online Access:https://nmb.abvpress.ru/jour/article/view/343

Internet

https://nmb.abvpress.ru/jour/article/view/343

Similar Items