Mutations in the skeletal muscle alpha-actin gene (ACTA1) associated with congenital myopathy with excess of thin myofilaments, nemaline myopathy and intranuclear rod myopathy were first described in 1999. At that time, only 15 different missense mutations were known in ACTA1. More than 60 mutations have now been identified. This review analyses this larger spectrum of mutations in ACTA1. It in...

Sir, Chanarin‐Dorfman syndrome (CDS) is a rare inherited disorder characterized by congenital ichthyosis, nonbullous ichthyosiform erythroderma, myopathy, and hepatic involvement with deposition of neutral lipids in skin, muscle, liver, central nervous system, and granulocytes. Variable skin and systemic involvement makes diagnosis difficult in some cases wherein an easy screening tool in the f...

Case presentation: A.M.M., 14 years old, consanguineous parents; term, pregnancy and delivery without complications, mother history of abortion. Healthy parents, 19-year-old sister healthy 12-year-old brother. At 4 months, the noticed absence head support, difficulty in sucking swallowing. She evolved with repeated hospitalizations due to aspiration pneumonia. 10 months she sat up support; did ...

Freeman-Sheldon syndrome was diagnosed in an unrelated adult man and woman, with severe abnormalities of the extremities but only slight anomalies of the face. Electromyography and muscle biopsy showed a myopathy which was classified as a congenital disproportion of fibre type and seemed to be the primary cause of the deformities. This allowed classification of the syndrome as a separate type o...

Central core disease (CCD) is an autosomal-dominant congenital myopathy, with muscle weakness and malignant hyperthermia (MH) susceptibility. We identified two of nine Brazilian CCD families carrying two mutations in the RYR1 gene. The heterozygous parents were clinically asymptomatic, and patients were mildly affected, differing from the few autosomal-recessive cases described previously. Rece...

We report a boy with severe congenital myopathy, Möbius-Poland sequence, Robin sequence, and severe developmental delay. We consider this patient to have Carey-Fineman-Ziter syndrome. Since this is only the seventh case reported, this case helps to define further the consistent manifestations of this recognizable phenotype. Additionally our patient shows laryngostenosis, intermittent episodes o...

Malignant hyperthermia occurs in humans with several congenital myopathies, usually in response to general anesthesia. Commonly, individuals who develop this syndrome lack symptoms of muscle disease, and their muscle lacks specific pathological changes. A biochemical marker for this myopathy has not previously been available; we found activity of adenylate cyclase and content of cyclic AMP to b...