Tag: Dystrophies
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Congenital Myopathy
1- myotonias: A- Steinert disease: – Synonym: Myotonic dystrophy – If transmitted in an autosomal dominant fashion. – The molecular abnormality in question is located in the gene encoding the protein kinase myotonine (DMPK) on ch.19 by abnormal amplification of a trinuclotidique sequence. – Atrophy predominant in the cephalic end responsible for a particular facies…
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