| Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy. | |
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MedLine Citation:
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PMID: 15477515 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Miyoshi distal myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B) were found to map to the same mutant gene encoding for dysferlin on chromosome 2p13. Most reported cases were large inbred kindreds whose members demonstrated both MM and LGMD2B phenotypes. OBJECTIVE: To investigate the clinical, neurophysiological, histopathological, and genetic features in 4 patients with MM from 2 unrelated Chinese families demonstrating linkage to the dysferlin locus. RESULTS: All patients were characterized by early adult onset, preferential atrophy, and weakness of calf muscles, marked elevation of serum creatine kinase levels, and absence of dysferlin staining. Magnetic resonance imaging showed fatty and fibrotic tissue signals in the affected muscles. Genetic analysis revealed novel compound heterozygous mutations, 1310+1G to A and GGG to GTC transition at nucleotide 1650 (G426V ) in one family and another novel compound heterozygous mutation, a deletion of C at nucleotide 477 and a CCG to CTG transition at nucleotide 6576 (P2068L), in the other family. CONCLUSION: Miyoshi distal myopathy in these 2 Chinese families demonstrated a homogenous phenotype and compound heterozygous mutations. Among the 4 mutations, 3 were novel mutations that, to our knowledge, have not been reported previously. |
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Authors:
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Long-Sun Ro; Guey-Jen Lee-Chen; Tzu-Ching Lin; Yih-Ru Wu; Chiung-Mei Chen; Cheng-Yueh Lin; Sien-Tsong Chen |
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Publication Detail:
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Type: Comparative Study; Journal Article |
Journal Detail:
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Title: Archives of neurology Volume: 61 ISSN: 0003-9942 ISO Abbreviation: Arch. Neurol. Publication Date: 2004 Oct |
Date Detail:
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Created Date: 2004-10-12 Completed Date: 2004-12-03 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0372436 Medline TA: Arch Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 1594-9 Citation Subset: AIM; IM |
Affiliation:
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Department of Neurology, Chang Gung Memorial Hospital, Taipei 10591, Taiwan. cgrols@adm.cgmh.org.tw |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Asian Continental Ancestry Group DNA Mutational Analysis / methods Distal Myopathies / genetics*, pathology Exons Family Health* Female Genotype Glycine / genetics Humans Immunohistochemistry / methods Leucine / genetics Linkage (Genetics) Magnetic Resonance Imaging / methods Male Membrane Proteins / genetics* Muscle Proteins / genetics*, metabolism Muscle, Skeletal / pathology Muscular Diseases / genetics, pathology Mutation / genetics Pedigree Phenotype* Polymorphism, Single-Stranded Conformational Proline / genetics Valine / genetics |
| Chemical | |
Reg. No./Substance:
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0/DYSF protein, human; 0/Membrane Proteins; 0/Muscle Proteins; 147-85-3/Proline; 56-40-6/Glycine; 61-90-5/Leucine; 7004-03-7/Valine |
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