期刊
NEUROLOGY
卷 59, 期 4, 页码 613-617出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.59.4.613
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资金
- NIAMS NIH HHS [AR44345] Funding Source: Medline
The alpha-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.
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