Genetic Screening / Counselling

Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine
Marianna Gabriella Rispoli, Vincenzo Di Stefano, Elide Mantuano, Maria Vittoria De Angelis

BMJ Case Reports CP Oct 2019, 12 (10) e231129; DOI: 10.1136/bcr-2019-231129
Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient
Mesaki Kenneth Ndugga-Kabuye, Joseph Maleszewski, Sirisak Chanprasert, Kelly D Smith

BMJ Case Reports CP Sep 2019, 12 (9) e230068; DOI: 10.1136/bcr-2019-230068
Worsening of movement disorder following treatment with electroconvulsive therapy in a patient with Huntington’s disease
Hesitha Abeysundera, Allan Campbell, Shanthi Sarma

BMJ Case Reports CP Aug 2019, 12 (8) e230389; DOI: 10.1136/bcr-2019-230389
Mitochondrial respiratory chain complex IV deficiency presenting as neonatal respiratory distress syndrome
Shrinal Kotecha, Venkatesh Kairamkonda

BMJ Case Reports CP Jul 2019, 12 (7) e229668; DOI: 10.1136/bcr-2019-229668
Lethal multiple pterygium syndrome
Farzeen Shuaib Mohtisham, Adel Sallam, Aiman Shawli

BMJ Case Reports CP May 2019, 12 (5) e229045; DOI: 10.1136/bcr-2018-229045
Child with unusual combination of sickle cell disease and autosomal recessive agammaglobulinemia associated with a novel CD79a gene mutation
Rosa Martins, Sofia Fraga, Isabel Esteves, Paulo Calhau

BMJ Case Reports CP Feb 2019, 12 (2) bcr-2018-227346; DOI: 10.1136/bcr-2018-227346
Incidental detection of asymptomatic pneumothorax resulting in a diagnosis of Birt-Hogg-Dubé syndrome
Keigo Kobayashi

BMJ Case Reports CP Jan 2019, 12 (1) bcr-2018-228939; DOI: 10.1136/bcr-2018-228939
Recurrent case of pregnancy-induced atypical haemolytic uremic syndrome (P-aHUS)
Dileep Kumar, Mary King, Belinda Jim, Anjali Acharya

BMJ Case Reports CP Jan 2019, 12 (1) bcr-2018-226571; DOI: 10.1136/bcr-2018-226571
PIBIDS syndrome in two Brazilian siblings
Kerstin Taniguchi Abagge, Felipe Haupenthal, Gabriella Yamashita Felber, Salmo Raskin

BMJ Case Reports CP Nov 2018, 11 (1) e223744; DOI: 10.1136/bcr-2017-223744
Special form of osteoporosis in a 53-year-old man
Simon Lampart, Silvia Azzarello-Burri, Christoph Henzen, Stefan Fischli

BMJ Case Reports CP Nov 2018, 11 (1) e226672; DOI: 10.1136/bcr-2018-226672

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Genetic Screening / Counselling

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