The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular
conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly …

Congenital myopathies are a group of genetic muscle disorders characterized clinically by
hypotonia and weakness, usually from birth, and a static or slowly progressive clinical …

How disease-associated mutations impair protein activities in the context of biological
networks remains mostly undetermined. Although a few renowned alleles are well …

Over the past decade there have been major advances in defining the genetic basis of the
majority of congenital myopathy subtypes. However the relationship between each …

Objective Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by
prominence of central nuclei on muscle biopsy. CNM has been associated with mutations in …

The ACTA1 gene encodes skeletal muscle α‐actin, which is the predominant actin isoform in
the sarcomeric thin filaments of adult skeletal muscle, and essential, along with myosin, for …

Recent progress in scientific research has facilitated accurate genetic and
neuropathological diagnosis of congenital myopathies. However, given their relatively low …

Nemaline myopathy constitutes a continuous spectrum of primary skeletal muscle disorders
named after the Greek word for thread, nema. The diagnosis is based on muscle weakness …

The congenital myopathies are a group of inherited neuromuscular disorders mainly defined
on the basis of characteristic histopathological features. We analysed 66 patients assessed …

The main histological abnormality in congenital fiber type disproportion (CFTD) is
hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch) fibers. To investigate …