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Figure 2 | Skeletal Muscle

Figure 2

From: Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

Figure 2

Severe NM in two brothers caused by compound heterozygous mutations for an exon 13 splice site and an exon 81 frameshift. DNA sequence analysis of genomic PCR products illustrates the two mutations found in these patients. (A) A splice site mutation in the 5' splice site of intron 13 (GT > TT)(g.32596G > T) was found in both reported patients and their father, but was not seen in their mother. (B) A deletion of two nucleotides was found in exon 81 (g.129384_129385del) of both patients and their mother, but was not present in their father. The results of PCR assays run in forward and reverse are shown to confirm the presence of a frameshift mutation. The sequencing results for patient 16-4 were identical to those shown for patient 16-2. Arrows indicate mutation sites.

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Skeletal Muscle

ISSN: 2044-5040

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