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Clinical Perspectives: Muscular Dystrophy Case Study

Clinical Perspectives: Muscular Dystrophy Case Study. Alison Skinner RCPath Self Help Course 6 th October 2008. Pedigree. Linkage Analysis 1. Linkage Analysis 2. Further Testing. Sent for dystrophin point mutation analysis No mutations identified

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Clinical Perspectives: Muscular Dystrophy Case Study

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  1. Clinical Perspectives:Muscular Dystrophy Case Study Alison Skinner RCPath Self Help Course 6th October 2008

  2. Pedigree

  3. Linkage Analysis 1

  4. Linkage Analysis 2

  5. Further Testing • Sent for dystrophin point mutation analysis • No mutations identified • FKRP screening was done due to clinical overlap • Patient is a compound heterozygote for c.826C>A (p.L276I) and c.1217A>C (p.Q406P)

  6. FKRP Report • “p.L276I has been seen numerous times and is very likely to be pathogenic” • “p.Q406P has not been reported previously and the clinical significance of this mutation is less certain. However it is a non-conservative amino acid substitution that occurs at an evolutionary conserved amino acid and is therefore likely to be pathogenic” • This result is consistent with a diagnosis of an FKRP-related muscular dystrophy

  7. Cascade Screening Normal p.L276I p.L276I p.L276I Normal p.L276I / p.Q406P

  8. FKRP Function

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