An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant

An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant

Nemaline myopathy is a heterogeneous disorder of skeletal muscle, and histologically characterized by the presence of nemaline bodies in muscle fibers. Patients with typical congenital form of nemaline myopathy initially present with proximal but later also distal muscle weakness, mostly involving f...

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Bibliographic Details
Main Authors: Masahiro Ohara, Yoshihiko Saito, Mutsufusa Watanabe, Saneyuki Mizutani, Masaki Kobayashi, Aritoshi Iida, Ichizo Nishino, Hiroto Fujigasaki
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:eNeurologicalSci
Subjects:
Nemaline myopathy
Congenital
Heart failure
Respiratory failure
Nebulin (NEB)
Online Access:http://www.sciencedirect.com/science/article/pii/S2405650220300472

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http://www.sciencedirect.com/science/article/pii/S2405650220300472

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