Abstract
The α-tropomyosin-3 (TPM3) gene was screened in 40 unrelated patients with nemaline myopathy (NM). A single compound heterozygous patient was identified carrying one mutation that converts the stop codon to a serine and a second splicing mutation that is predicted to prevent inclusion of skeletal muscle exon IX. TPM3 mutations are a rare cause of NM, probably accounting for less than 3% of cases. The severity of cases with TPM3 mutations may vary from severe infantile to late childhood onset, slowly progressive forms.
Original language | English (US) |
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Pages (from-to) | 613-617 |
Number of pages | 5 |
Journal | Neurology |
Volume | 59 |
Issue number | 4 |
DOIs | |
State | Published - Aug 27 2002 |
ASJC Scopus subject areas
- Clinical Neurology