Skip to main content

Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants

The autosomal recessive demyelinating form of Charcot-Marie-Tooth can be due to SH3TC2 gene pathogenic variants (CMT4C, AR-CMTde-SH3TC2). We report on a series of 13 patients with AR-CMTde-SH3TC2 among a French cohort of 350 patients suffering from all type of inheritance peripheral neuropathy. The SH3TC2 gene appeared to be the most frequently mutated gene for demyelinating neuropathy in this series by NGS. Four new pathogenic variants have been identified: two nonsense variants (p.(Tyr970*), p.(Trp1199*)) and two missense variants (p.(Leu1126Pro), p.(Ala1206Asp)).

from Journal of the Neurological Sciences https://ift.tt/2Nq7RbY
Labels:

Comments

Post a Comment

Popular posts from this blog

Menopause Symptoms Reduced by Cold Water Swimming

Cold water swimming significantly eases menopausal symptoms. Surveying 1114 women, with 785 experiencing menopause, researchers found improvements in anxiety, mood swings, low mood, and hot flushes among participants. from Neuroscience News https://ift.tt/9AqHsEa
Post a Comment
Read more

Balancing Act: The Mixed Blessings of Solitude on Mental Health

A new study examines the nuanced impact of solitude on mental health among adults aged 35 and older in the UK and US. Tracking 178 participants over 21 days, the research found no definitive optimal balance between solitude and social interaction. from Neuroscience News https://ift.tt/oD5jKd8
Post a Comment
Read more

Handwriting Boosts Brain Connectivity and Learning

Handwriting, compared to typing, results in more complex brain connectivity patterns, enhancing learning and memory. This study used EEG data from 36 students to compare brain activity while writing by hand and typing. from Neuroscience News https://ift.tt/0bklQBj
Post a Comment
Read more