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Autosomal recessive inheritance of classic Bethlem myopathy.
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Autosomal recessive inheritance of classic Bethlem myopathy.
Autosomal recessive inheritance of classic Bethlem myopathy. Neuromuscul Disord. 2009 Dec; 19(12):813-7.
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PubMed
subject areas
Adult
Amino Acid Sequence
Collagen Type VI
Dermis
Exons
Fibroblasts
Genes, Recessive
Heterozygote
Humans
Male
Molecular Sequence Data
Muscular Diseases
Mutation, Missense
Pedigree
Phenotype
Sequence Deletion
Sequence Homology, Amino Acid