FND

Childhood-onset parkinsonism, dystonia and severe muscle wasting in a Sudanese girl caused by a novel homozygous DnaJ heat shock protein family (heat shock protein 40) member C6 frameshift variant, with an incidental pathogenic breast cancer 1 gene secondary finding: a case report

Study Overview The study focuses on a unique case involving a young girl from Sudan who presented with a combination

Childhood-onset parkinsonism, dystonia and severe muscle wasting in a Sudanese girl caused by a novel homozygous DnaJ heat shock protein family (heat shock protein 40) member C6 frameshift variant, with an incidental pathogenic breast cancer 1 gene secondary finding: a case report Read Post »

Childhood-onset parkinsonism, dystonia and severe muscle wasting in a Sudanese girl caused by a novel homozygous DnaJ heat shock protein family (heat shock protein 40) member C6 frameshift variant, with an incidental pathogenic breast cancer 1 gene secondary finding: a case report

Case Presentation A Sudanese girl, aged 8, presented with notable developmental delays and motor difficulties. Her motor skills were delayed

Childhood-onset parkinsonism, dystonia and severe muscle wasting in a Sudanese girl caused by a novel homozygous DnaJ heat shock protein family (heat shock protein 40) member C6 frameshift variant, with an incidental pathogenic breast cancer 1 gene secondary finding: a case report Read Post »

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