Article

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.
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Langue : ANGLAIS