Nemaline myopathies: State of the art

Nemaline myopathy (NM) is one of the most common forms of congenital myopathy. The condition is defined by the histopathological finding of nemaline bodies (rods) on muscle biopsy and is associated with hypotonia and muscle weakness. The clinical spectrum encompasses lethal forms presenting in the n...

Full description

Saved in:
Bibliographic Details
Published in:Revue neurologique 2016-10, Vol.172 (10), p.614-619
Main Authors: Malfatti, E., Romero, N.B.
Format: Article
Language:English
Subjects:
Biopsy
Congenital myopathy
Humans
Myopathies, Nemaline - genetics
Myopathies, Nemaline - pathology
Myopathies, Nemaline - therapy
Nemaline myopathy
Skeletal muscle pathology
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Nemaline myopathy (NM) is one of the most common forms of congenital myopathy. The condition is defined by the histopathological finding of nemaline bodies (rods) on muscle biopsy and is associated with hypotonia and muscle weakness. The clinical spectrum encompasses lethal forms presenting in the neonatal period with profound weakness and less severe congenital diseases of later onset. NM is significantly heterogeneous from a genetic point of view, and its inheritance can be autosomal-dominant (AD), sporadic or autosomal-recessive (AR). To date, 11 genes encoding proteins of skeletal muscle thin filaments, Kelch domain-associated proteins and an unconventional myosin have been implicated in NM. The mechanisms leading to nemaline body formation and muscle weakness are still largely unclear. This report reviews the clinical, histopathological and genetic features of NM, with a focus on some of the recently discovered forms.
ISSN:0035-3787
DOI:10.1016/j.neurol.2016.08.004