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Table 1 Clinical data of case reports of congenital myopathy with chylothorax

From: Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature

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
  1. GA, gestational age; NA, not available.