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Bethlem myopathy: A novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene
by
Kachuei, Maryam
,
Orangi, Kiana
,
Mohammadi, Aynaz
,
Mohammadi, Mohammad
,
Mojbafan, Marzieh
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Clinical case reports
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Bethlem myopathy: A novel homozygous variant of c. 385C >T (p. Arg129Cys ) in the COL6A2 gene
by
Kachuei, Maryam
,
Orangi, Kiana
,
Mohammadi, Aynaz
,
Mohammadi, Mohammad
,
Mojbafan, Marzieh
Published in
Clinical case reports
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Bethlem Myopathy
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Cardiomyopathy
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Case Report
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Collagen
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Congenital Disorder
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Immunohistochemistry
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Muscle Strength
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Muscular Dystrophy
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Mutation
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