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. Author manuscript; available in PMC: 2015 Nov 1.
Published in final edited form as: JAMA Neurol. 2014 Nov 1;71(11):1413–1420. doi: 10.1001/jamaneurol.2014.1432

Figure 1. Genetic Analysis and Confirmation of an NEFL Mutation in the Family With a Congenital Myopathy Diagnosis.

Figure 1

A, Shown is the affected proband mother (20-1) and her 3 affected sons (20-2, 20-3, and 20-4). The square represents a male individual; a circle, a female individual; the arrow; the proband; and a slash mark, a deceased individual. B, Chromatograms from Sanger sequencing of genomic polymerase chain reaction products in the proband and her 3 affected sons show the heterozygous c.1261C>T change. C, Chromatograms of the sequenced real-time quantitative reverse transcription–polymerase chain reaction products derived from muscle biopsy samples in patient 20-4 and 2 controls (CO1 and CO2) show a mutant transcript peak of similar height to that of the wild type, suggesting no significant nonsense-mediated decay of the mutated NEFL messenger RNA. NEFL, neurofilament light polypeptide gene.