Neuro genetics

New phenotype caused by POMGNT2 mutations
Marco Cassone, Chiara Fiorillo, Federico Zara, Carlo Vitali

BMJ Case Reports CP Jul 2021, 14 (7) e242358; DOI: 10.1136/bcr-2021-242358
A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy
Sandra Ganchinho Lucas, Inês Vieira Santos, Filipe Jorge Pencas Alfaiate, Ireneia Lino

BMJ Case Reports CP Jul 2021, 14 (7) e242341; DOI: 10.1136/bcr-2021-242341
Stridor: a rare presentation of motor neuron disease
Brian Gordon, Eimear Joyce, Timothy J Counihan

BMJ Case Reports CP Jul 2021, 14 (7) e241923; DOI: 10.1136/bcr-2021-241923
Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure
Jiwan Shriram Kinkar, Patel Zeeshan Jameel, Banshi Lal Kumawat, Priyanka Kalbhor

BMJ Case Reports CP Jun 2021, 14 (6) e241767; DOI: 10.1136/bcr-2021-241767
Fatal insomnia: the elusive prion disease
Dharmini Patel, Hagar Ibrahim, Julia Rankin, David Hilton, Marcelo A Barria, Diane L Ritchie, Colin Smith, Adam Zeman

BMJ Case Reports CP Jun 2021, 14 (6) e241289; DOI: 10.1136/bcr-2020-241289
Primary leptomeningeal melanoma: the prognostic significance of its genetic signature and embryological origin
Ali Buckland, Celia Green, Lay Kun Kho, David Prentice

BMJ Case Reports CP May 2021, 14 (5) e239496; DOI: 10.1136/bcr-2020-239496
Claustrum hyperintensity: a rare radiological correlate in Niemann-Pick disease
Debaleena Mukherjee, Souvik Dubey, Goutam Ganguly, Alak Pandit

BMJ Case Reports CP Jan 2021, 14 (1) e239630; DOI: 10.1136/bcr-2020-239630
Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form
Weiyi Mu, Teresa Heller, Kristin W Barañano

BMJ Case Reports CP Jan 2021, 14 (1) e236732; DOI: 10.1136/bcr-2020-236732
Double trouble: a case of an ataxic young man with coeliac disease and cerebrotendinous xanthomatosis
Jordan Burgess, Diba Behzad-Noori, Cheryl Longman, Kathryn Brennan

BMJ Case Reports CP Dec 2020, 13 (12) e237978; DOI: 10.1136/bcr-2020-237978
Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability
Neha Jangid, Priyanka Surana, Gajja Salmonos, Vivek Jain

BMJ Case Reports CP Dec 2020, 13 (12) e237542; DOI: 10.1136/bcr-2020-237542

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Neuro genetics

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