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Article

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

2 Apr 2008

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Share to Cardiomyopathy and Myosin Studies
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Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 18382475
DOI: 10.1038/ejhg.2008.60

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Related research

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Research trail→

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Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish originPMID 18382475Read ↗

A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathySemantic proximity Read ↗

A TPM3 mutation causing cap myopathySemantic proximity Read ↗

Novel TTN Mutation Causing Congenital Myopathy.Semantic proximity Read ↗

Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy.Semantic proximity Read ↗

A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report.Semantic proximity Read ↗

Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies.Semantic proximity Read ↗

Noncompaction and the novel variant c.425A>T in TPM1.Semantic proximity Read ↗

Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.Semantic proximity Read ↗

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.Semantic proximity Read ↗

A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.Semantic proximity Read ↗

A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.Semantic proximity Read ↗

Mutations of the slow muscle α-tropomyosin gene, <i>TPM3</i> , are a rare cause of nemaline myopathySemantic proximity Read ↗

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