Study | Authors’ study | Garcia-Angarita, et al. (2009) [ 7 ] | Schröder, et al. (2004) [ 6 ] | Smets (2008) [ 15 ] | Son, et al. (2012) [ 16 ] |
---|---|---|---|---|---|
Age at presentation | At birth (GA 37 week) | At birth (GA 39 week) | At birth | At birth | At birth, (GA 30 week, non-identical twin A) |
Sex | Male | Male | Male | Male | Male |
Race | Thai | German | Turkish | Turkish | Korean |
Diagnosis | Nemaline myopathy, severe congenital | Nemaline myopathy, severe congenital | Nemaline myopathy (intranuclear rod variant), severe congenital | Myotubular myopathy, severe congenital | Congenital myotonic dystrophy type 1 |
Gene muatation | ACTA1 gene (c.1127G > C, exon 7), heterozygous | ACTA1 gene (c.222G > T & c.223C > T, exon 3), heterozygous | ACTA1 gene (Asp154Asn, exon 4), heterozygous | MTM1 gene (c.1261-10A > G) | DMPK gene (more than 750 CTG repeats) |
Inheritance | De novo | De novo | De novo | X-linked recessive | Autosomal dominant (affected mother) |
Chylothorax | Bilateral | Bilateral | Present | Bilateral | Bilateral |
Triglyceride level in pleural effusion (mg/dl) | 4773 | NA | NA | 746 | 495 |
Cause of chylothorax | Primary pulmonary lymphangiectasia | Not defined | Not defined | Not defined | Not defined |
Serum creatine kinase (U/L) | 16-25, Low, (normal 30-200 U/L) | Normal | NA | NA | 281 |
Signs and symptoms | Absent spontaneous neonatal movement, respiratory difficulty, fractures of both humeri and femurs, high arch palate | Absent spontaneous neonatal movement, respiratory difficulty, fractures of both humeri and femurs | Generalized hypotonia, respiratory difficulty, right pulmonary hypoplasia | Generalized hypotonia, respiratory difficulty | Generalized hypotonia, respiratory difficulty, triangular face, inverted v-shaped upper lip |
Age at death, Cause of death | 6 weeks, respiratory failure | 8 weeks, respiratory failure | 9 weeks, respiratory failure | 16 weeks, NA | 14 weeks, respiratory failure and pneumonia |